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    1797 results match your criteria Pseudoxanthoma Elasticum

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    MUSE (Microscopy with UV Surface Excitation): a novel approach to real-time inexpensive slide free dermatopathology.
    J Cutan Pathol 2018 Apr 16. Epub 2018 Apr 16.
    Department of Pathology and Laboratory Medicine, University of California, Sacramento, CA, USA.
    Traditional histology relies on processing and physically sectioning either frozen or formalin-fixed, paraffin-embedded (FFPE) tissue into thin slices (typically 4-6 microns) prior to staining and viewing on a standard wide-field microscope. MUSE represents a novel alternative microscopy method that works with ultraviolet (UV) excitation using oblique cis-illumination which can generate high-quality images from the cut surface of fresh or fixed tissue after brief staining, with no requirement for fixation, embedding and histological sectioning of tissue specimens. We examined its potential utility in dermatopathology. Read More

    Retina 2018 Apr 12. Epub 2018 Apr 12.
    Department of Ophthalmology, University Medical Center Utrecht, the Netherlands.
    Purpose: To assess the age-specific proportion of visual impairment in patients with pseudoxanthoma elasticum (PXE) and to compare this with foveal abnormality and similar data of late age-related macular degeneration patients.

    Methods: Cross-sectional data of 195 patients with PXE were reviewed, including best-corrected visual acuity and imaging. The World Health Organisation criteria were used to categorize bilateral visual impairment. Read More

    Carotid strain measurement in patients with pseudoxanthoma elasticum - Hint for a different pathomechanism?
    Intractable Rare Dis Res 2018 Feb;7(1):25-31
    Department of Internal Medicine II-Cardiology, Pulmonology and Angiology, University Hospital Bonn, Bonn, Germany.
    Pseudoxanthoma Elasticum (PXE), caused by autosomal-recessive mutations in the ATP-binding cassette transporter (ABCC6) gene, is known for high prevalence of atherosclerosis. A novel method investigating elastic properties of arteries in atherosclerotic patients is vascular strain analysis. We compared 44 PXE patients with peripheral artery disease (PXE+PAD group) with 50 control patients, each 25 without (control group) and with PAD (PAD group). Read More

    Etidronate for Prevention of Ectopic Mineralization in Patients With Pseudoxanthoma Elasticum.
    J Am Coll Cardiol 2018 Mar;71(10):1117-1126
    Department of Vascular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands. Electronic address:
    Background: In pseudoxanthoma elasticum (PXE), low pyrophosphate levels may cause ectopic mineralization, leading to skin changes, visual impairment, and peripheral arterial disease.

    Objectives: The authors hypothesized that etidronate, a pyrophosphate analog, might reduce ectopic mineralization in PXE.

    Methods: In the Treatment of Ectopic Mineralization in Pseudoxanthoma Elasticum trial, adults with PXE and leg arterial calcifications (n = 74) were randomly assigned to etidronate or placebo (cyclical 20 mg/kg for 2 weeks every 12 weeks). Read More

    Alteration of Extracellular Nucleotide Metabolism in Pseudoxanthoma Elasticum.
    J Invest Dermatol 2018 Mar 6. Epub 2018 Mar 6.
    MITOVASC-UMR CNRS 6015 INSERM U1083, Angers University, France; University Hospital of Angers, Angers, France.
    Pseudoxanthoma elasticum (PXE) is a rare genetic condition primarily caused by hepatic ABCC6 transporter dysfunction. Most clinical manifestations of PXE are due to premature calcification of elastic fibers. However, the vascular impact of PXE is pleiotropic and remains ill defined. Read More

    Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum.
    Graefes Arch Clin Exp Ophthalmol 2018 Apr 26;256(4):699-707. Epub 2018 Feb 26.
    Ophthalmology Department, CHU Angers, Angers, France.
    Background: Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by mutations in the ABCC6 gene, resulting in various retinal lesions, among other systemic manifestations. Visual loss may occur in PXE, most commonly caused by choroidal neovascularization and macular atrophy, but little is known about the consequences of fundus pulverulentus (FP) in PXE. The aim of this study was to evaluate ophthalmic outcomes in patients with FP associated with PXE in a large series of PXE patients. Read More

    Familial pseudoxanthoma elasticum associated with multiple comedones.
    Dermatol Online J 2017 Sep 15;23(9). Epub 2017 Sep 15.
    Division of Dermatology, Department of Medicine, University of Arizona, Tucson, Arizona.
    Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder characterized by atypical elastic fibers that causes connective tissue abnormalities of the skin, eyes, and heart, among other organs. The disorder is rare, with a classic presentation of yellow-orange cobblestone-like papules on flexural areas, lax skin, ocular degeneration, and moribund vasculature in multiple organs. There is wide variability in the presentation of the affected organs [1]. Read More

    Retin Cases Brief Rep 2018 Feb 13. Epub 2018 Feb 13.
    Department of Ophthalmology, New York Eye and Ear Infirmary, Mount Sinai School of Medicine, New York, New York.
    Purpose: To report multimodal imaging in a novel case of angioid streaks in a patient with Turner syndrome with 10-year follow-up.

    Methods: Case report of a patient with Turner syndrome and angioid streaks followed at Bellevue Hospital Eye Clinic from 2007 to 2017. Fundus photography, fluorescein angiography, and optical coherence tomography angiography were obtained. Read More

    Arterial stiffening and thickening in patients with pseudoxanthoma elasticum.
    Atherosclerosis 2018 Mar 9;270:160-165. Epub 2018 Feb 9.
    Department of Vascular Medicine, University Medical Center Utrecht, Utrecht University, The Netherlands. Electronic address:
    Background And Aims: Patients with pseudoxanthoma elasticum (PXE), a monogenetic calcification disease, are at high vascular risk. Although the precise arterial phenotype remains unestablished, it is hypothesized that PXE predominantly affects the medial arterial layer leading to arterial stiffening. We aimed to test this hypothesis by measuring arterial wall characteristics in PXE and comparisons with the general population and diabetes mellitus type 2 (DM2), a condition typically associated with mixed intimal and medial arterial disease. Read More

    18F-Flurodeoxyglucose and 18F-Sodium Fluoride Positron Emission Tomography/Computed Tomography Imaging of Arterial and Cutaneous Alterations in Pseudoxanthoma Elasticum.
    Circ Cardiovasc Imaging 2018 Jan;11(1):e007060
    From the Departments of Nuclear Medicine (P.-J.M., F.L.) and Dermatology (L.M.), Angers University Hospital, France; CRCINA, Université de Nantes, Université d'Angers, CHU d'Angers, France (F.L.); Department of Physiology and Vascular Investigation, Nice University Hospital, France (G.L.); PXE Consultation Center, University Hospital of Angers, France (G.L., L.M., L.O.); MitoVasc Institute, UMR INSERM 1083/CNRS 6214 Angers University, France (L.M., L.O.); Department of Vascular Medicine, CHU de Rennes, France (L.O.); Univ Rennes, CHU Rennes, INSERM, CIC 1414, F-35000 Rennes, France (L.O.); and Department of Vascular Medicine, Centre Hospitalier de Redon, France (L.O.).

    Dermoscopic features of pseudoxanthoma elasticum.
    Clin Exp Dermatol 2018 Mar 22;43(2):175-179. Epub 2017 Dec 22.
    Department of Dermatology, Graduate School of Medicine, Chiba University, Chiba, Japan.
    Pseudoxanthoma elasticum (PXE) is a disease characterized by aberrant mineralization of soft tissue and fragmentation of elastic fibres. It is often difficult to distinguish PXE clinically from pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-like PDE). However, we have identified that the dermoscopic findings in PXE include coalescing and reticulated yellow-white clods on a light purple-red background, whereas the dermoscopic findings in PXE-like PDE lack such a coloured background. Read More

    Pseudoxanthoma Elasticum-Like in β-Thalassemia Major, a matter of α-Klotho and Parathyroid Hormone?
    Hemoglobin 2017 Jul - Nov;41(4-6):254-259. Epub 2017 Dec 11.
    a Department of Medical Sciences, Section of Pediatrics , University of Ferrara , Ferrara , Italy.
    Pseudoxanthoma elasticum-like (PXL) condition is one of the complications faced by patients with β-thalassemia major (β-TM). Histopathological features include abnormal, mineralized and fragmented elastic fibers in skin, eyes and arterial blood vessels (elastorrhexia). The pathogenesis of PXL lesions in β-TM is not yet completely understood. Read More

    Quantitative Fundus Autofluorescence in Pseudoxanthoma Elasticum.
    Invest Ophthalmol Vis Sci 2017 12;58(14):6159-6165
    Department of Ophthalmology, University of Bonn, Bonn, Germany.
    Purpose: To quantify lipofuscin-associated fundus autofluorescence in patients with pseudoxanthoma elasticum (PXE), a model disease for Bruch's membrane pathology.

    Methods: In this prospective, monocenter, cross-sectional case-control study, 49 patients with PXE (mean age: 46 years, range 18-62) underwent quantitative fundus autofluorescence (qAF) imaging with a modified scanning laser ophthalmoscope containing an internal fluorescent reference for normalization of images. The mean qAF values of a circular ring centered on the fovea (qAF8) were measured and compared to 108 healthy controls (mean age 40 years, range 18-64). Read More

    [Vascular calcification in pseudoxanthoma elasticum in children].
    J Med Vasc 2017 Dec 31;42(6):333-337. Epub 2017 Oct 31.
    Service de pédiatrie IV, hôpital d'Enfants, CHU Ibn Sina, faculté de médecine et de pharmacie, université Mohamed V, Rabat institut, avenue Ibn-Rochd, BP 6542, Rabat, Maroc.
    Introduction: Vascular calcifications are associated with several diseases that affect vascular connective tissue and skin and cause considerable morbidity and mortality. The prototype of these conditions is pseudoxanthoma elasticum. We report, in this study, 4 pediatric cases of vascular calcifications diagnosed as elastic pseudoxanthoma. Read More

    Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity.
    J Dermatol Sci 2018 Feb 22;89(2):201-204. Epub 2017 Nov 22.
    Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Italy. Electronic address:

    [Homozygous ectonucleotide pyrophosphatase/phosphodiesterase 1 variants in a girl with hypophosphatemic rickets and literature review].
    Zhonghua Er Ke Za Zhi 2017 Nov;55(11):858-861
    Department of Endocrinology, Capital Institute of Pediatrics, Beijing 100020, China.
    To investigate the clinical features and genetic characteristics of patients with ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene variants. The clinical data of a patient with ENPP1 homozygous variants from Capital Institute of Pediatrics was collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center from Biotechnology Information and PubMed by using search term "ENPP1" , "hypophosphatemic rickets" . The literature retrieval was confined from 1980 to February 2017. Read More

    Intra-operative radiotherapy management for breast cancer treatment in patients with pseudoxanthoma elasticum: A case report.
    Breast J 2017 Nov 5. Epub 2017 Nov 5.
    Division of Surgical Senology, European Institute of Oncology, Milano, Italy.
    Pseudoxanthoma elasticum is a systemic metabolic disease presenting calcifications and progressive fragmentation of elastic fibers. Actually, no targeted therapies are available for the treatment; only prevention of complications is possible. Classically, pseudoxanthoma elasticum is a "benign" disease, without cancer association. Read More

    Calciphylaxis with pseudoxanthoma elasticum-like changes: A case series.
    J Cutan Pathol 2018 Feb 12;45(2):118-121. Epub 2017 Dec 12.
    The Ronald O. Perelman Department of Dermatology, Section of Dermatopathology, New York University, New York, New York.
    Background: Calciphylaxis and pseudoxanthoma elasticum (PXE) are rare, clinically distinct disorders that share a common feature of cutaneous calcification and that vary widely in their cutaneous presentation.

    Methods: We conducted a descriptive, retrospective review of biopsy specimens collected over a 2-year period. Only specimens with a histologic and clinical diagnosis of calciphylaxis were included in the review. Read More

    First-genetic analysis of atypical phenotype of pseudoxanthoma elasticum with ocular manifestations in the absence of characteristic skin lesions.
    J Eur Acad Dermatol Venereol 2018 Apr 30;32(4):e147-e149. Epub 2017 Oct 30.
    Department of Dermatology, Nagasaki University Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, 852-8523, Nagasaki, Japan.

    A case of pseudoxanthoma elasticum with proliferative diabetic retinopathy.
    BMC Ophthalmol 2017 Oct 4;17(1):184. Epub 2017 Oct 4.
    Department of Ophthalmology, Osaka Medical College, 2-7 Daigaku-machi, Takatsuki City, Osaka, 569-8686, Japan.
    Background: To report the case of a patient with pseudoxanthoma elasticum (PXE) and proliferative diabetic retinopathy (PDR), and discuss the relationship between PXE and diabetic retinopathy (DR).

    Case Presentation: A 47-year-old man with PXE presented with angioid streaks and DR in both eyes, and bilateral panretinal photocoagulation was performed for treatment. Vitrectomy had previously been performed in his right eye for vitreous hemorrhage due to PDR. Read More

    Ultrastructural aspects of pseudoxanthoma elasticum.
    An Bras Dermatol 2017 Jul-Aug;92(4):527-530
    Dermatology Service, Pontifícia Universidade Católica do Rio Grande do Sul (PUC-RS) - Porto Alegre (RS), Brazil.
    We report the ultrastructural findings in a case of a 72-year-old black woman with confluent yellowish papules in the cervical region. She had no comorbidities. Ophthalmological examination, electrocardiogram, and echocardiogram were normal. Read More

    Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance.
    J Ophthalmol 2017 20;2017:1079687. Epub 2017 Aug 20.
    Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
    Purpose: To report the spectrum of variants in Japanese patients with angioid streaks (AS).

    Patients And Methods: This was a single-center cohort study. The medical records of 20 patients with AS from 18 unrelated Japanese families were retrospectively reviewed. Read More

    The ABCC6 Transporter: A New Player in Biomineralization.
    Int J Mol Sci 2017 Sep 11;18(9). Epub 2017 Sep 11.
    Faculty of Medicine, University of Nice-Sophia Antipolis, 06107 Nice, France.
    Pseudoxanthoma elasticum (PXE) is an inherited metabolic disease with autosomal recessive inheritance caused by mutations in the gene. Since the first description of the disease in 1896, alleging a disease involving the elastic fibers, the concept evolved with the further discoveries of the pivotal role of ectopic mineralization that is preponderant in the elastin-rich tissues of the skin, eyes and blood vessel walls. After discovery of the causative gene of the disease in 2000, the function of the ABCC6 protein remains elusive. Read More

    Characterization of dermal myofibroblast differentiation in pseudoxanthoma elasticum.
    Exp Cell Res 2017 11 4;360(2):153-162. Epub 2017 Sep 4.
    Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen, Universitätsklinik der Ruhr-Universität Bochum, Georgstraße 11, 32545 Bad Oeynhausen, Germany.
    Pseudoxanthoma elasticum (PXE) is a rare hereditary disorder which is caused by ABCC6 (ATP-binding cassette subfamily C member 6) gene mutations. Characteristic hallmarks of PXE are progressive calcification and degradation of the elastic fibers in skin, cardiovascular system and ocular fundus. Since the underlying pathomechanisms of PXE remain unidentified, the aim of this study was to get new insights into PXE pathophysiology by characterizing dermal myofibroblast differentiation. Read More

    Pseudoxanthoma elasticum-like changes in nonuremic calciphylaxis: Case series and brief review of a helpful diagnostic clue.
    J Cutan Pathol 2017 Dec 19;44(12):1064-1069. Epub 2017 Sep 19.
    Department of Dermatology, University of Florida College of Medicine, Gainesville, Florida.
    Calciphylaxis is a rare syndrome of vascular calcification with thrombosis that occurs most often in patients with end-stage renal disease, and it frequently portends a guarded prognosis. Rarely, nonuremic calciphylaxis (NUC) may occur; in this context, a strongly supportive histology is crucial in establishing the diagnosis. Herein, we describe 2 cases of NUC associated with pseudoxanthoma elasticum-like changes, identified in both initial nondiagnostic and subsequent diagnostic biopsy specimens. Read More

    Retina 2017 Aug 9. Epub 2017 Aug 9.
    *Department of Ophthalmology, University Vita-Salute, Scientific Institute San Raffaele, Milan, Italy; and †G.B. Bietti Foundation for Study and Research in Ophthalmology, IRCCS, Rome, Italy.
    Purpose: To assess the prevalence and the clinical course of focal choroidal excavation (FCE) in patients affected by macular dystrophies.

    Methods: Prospective case series. All the patients underwent a complete ophthalmologic examination, including best-corrected visual acuity and spectral domain optical coherence tomography. Read More

    Treatment of Pseudoxanthoma elasticum-like papillary dermal elastolysis with non-ablative fractional resurfacing laser resulting in clinical and histologic improvement in Elastin and Collagen.
    J Cosmet Laser Ther 2017 Jul 31. Epub 2017 Jul 31.
    a Department of Dermatology and Cutaneous Biology , Sidney Kimmel Medical College , 833 Chestnut Suite #740, Philadelphia , PA 19107.
    Objective: Pseudoxanthoma Elasticum-Like Papillary Dermal Elastolysis (PXE-PDE) is a rare skin condition seen predominantly in elderly females. These asymptomatic lesions are brought to the dermatologist's attention due to patient's displeasure in their appearance. We report a case of a 28-year old female with PXE-PDE on the right neck treated with Non-Ablative Fractional Resurfacing (NAFR). Read More

    Oral administration of pyrophosphate inhibits connective tissue calcification.
    EMBO Mol Med 2017 Nov;9(11):1463-1470
    Institute of Enzymology, RCNS, Hungarian Academy of Sciences, Budapest, Hungary
    Various disorders including pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI), which are caused by inactivating mutations in and , respectively, present with extensive tissue calcification due to reduced plasma pyrophosphate (PPi). However, it has always been assumed that the bioavailability of orally administered PPi is negligible. Here, we demonstrate increased PPi concentration in the circulation of humans after oral PPi administration. Read More

    ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy.
    Int J Mol Sci 2017 Jul 11;18(7). Epub 2017 Jul 11.
    Laboratory of Translational Genomics, The Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute, National Institutes of Health, Gaithersburg, MD 20885, USA.
    Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder characterized by the mineralization of connective tissues in the body. Primary manifestation of PXE occurs in the tissues of the skin, eyes, and cardiovascular system. PXE is primarily caused by mutations in the gene. Read More

    Early arterial calcification does not correlate with bone loss in pseudoxanthoma elasticum.
    Bone 2017 Oct 27;103:88-92. Epub 2017 Jun 27.
    PXE Health and Research Center, University Hospital of Angers, Angers, France; MitoVasc, UMR CNRS 6015 - Inserm 1083, School of Medicine, UBL University, Angers, France; Laboratory of Physiology and Molecular Medicine - LP2M, and University Hospital of Nice, Nice, France. Electronic address:
    Background And Aims: Pseudoxanthoma elasticum (PXE; OMIM 264800, prevalence 1/25,000 to 1/50,000) is an autosomal recessive multisystem disease due to deficiency in ABCC6, an ATP-binding cassette, sub-family C transporter. The PXE phenotype is mainly characterized by progressive ectopic calcification of connective tissues (namely skin, retinal Bruch's membrane and peripheral arteries) but the impact of PXE on bone structure is currently unknown. The present study sought to investigate bone mineralization and its potential link with vascular calcification in a large cohort of PXE patients with inherited mutations of the ABCC6 gene. Read More

    Plasma PPi Deficiency Is the Major, but Not the Exclusive, Cause of Ectopic Mineralization in an Abcc6 Mouse Model of PXE.
    J Invest Dermatol 2017 Nov 23;137(11):2336-2343. Epub 2017 Jun 23.
    Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College, and the PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:
    Pseudoxanthoma elasticum (PXE), a prototype of heritable ectopic mineralization disorders, is caused in most cases by inactivating mutations in the ABCC6 gene. It was recently discovered that absence of ABCC6-mediated adenosine triphosphate release from the liver and consequently reduced plasma inorganic pyrophosphate (PPi) levels underlie PXE. This study examined whether reduced levels of circulating PPi, an antimineralization factor, is the sole mechanism of PXE. Read More

    Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase.
    Sci Transl Med 2017 Jun;9(393)
    Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
    Biallelic mutations in cause pseudoxanthoma elasticum (PXE), a disease characterized by calcification in the skin, eyes, and blood vessels. The function of ATP-binding cassette C6 (ABCC6) and the pathogenesis of PXE remain unclear. We used mouse models and patient fibroblasts to demonstrate genetic interaction and shared biochemical and cellular mechanisms underlying ectopic calcification in PXE and related disorders caused by defined perturbations in extracellular adenosine 5'-triphosphate catabolism. Read More

    Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
    Curr Osteoporos Rep 2017 Aug;15(4):255-270
    Department of General Pediatrics, Münster University Children's Hospital, Albert-Schweitzer-Campus 1, D-48149, Münster, Germany.
    Purpose Of Review: We give an update on the etiology and potential treatment options of rare inherited monogenic disorders associated with arterial calcification and calcific cardiac valve disease.

    Recent Findings: Genetic studies of rare inherited syndromes have identified key regulators of ectopic calcification. Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arterial calcification and distal joint calcification, progeria, idiopathic basal ganglia calcification, and hyperphosphatemic familial tumoral calcinosis; (2) interferonopathies (Singleton-Merten syndrome); and (3) others, including Keutel syndrome and Gaucher disease type IIIC. Read More

    Detection of nonexudative choroidal neovascularization secondary to angioid streaks using optical coherence tomography angiography.
    Eur J Ophthalmol 2017 Aug 30;27(5):e140-e143. Epub 2017 Aug 30.
    Department of Ophthalmology, University of Athens, Georgios Gennimatas General Hospital - Greece.
    Purpose: To present a case of nonexudative choroidal neovascularization secondary to angioid streaks in a patient with pseudoxanthoma elasticum. The lesion was monitored over an 8-month period with the use of optical coherence tomography angiography.

    Methods: Case report. Read More

    knockdown in HepG2 cells induces a senescent-like cell phenotype.
    Cell Mol Biol Lett 2017 4;22. Epub 2017 Apr 4.
    Department of Sciences, University of Basilicata, Via dell'Ateneo Lucano, 85100 Potenza, Italy.
    Background: Pseudoxanthoma elasticum (PXE) is characterized by progressive ectopic mineralization of elastic fibers in dermal, ocular and vascular tissues. No effective treatment exists. It is caused by inactivating mutations in the gene encoding for the ATP-binding cassette, sub-family C member 6 transporter (ABCC6), which is mainly expressed in the liver. Read More

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