1,256 results match your criteria Nevoid Basal Cell Carcinoma Syndrome
Dermatol Pract Concept 2018 Oct 31;8(4):306-313. Epub 2018 Oct 31.
Anatomic Pathology Unit, Hospital of Macerata, Italy.
Background: In spite of recent advances in the histopathological and molecular diagnosis of melanocytic neoplasms, a certain proportion of these lesions remain a daunting challenge for both the clinician and the pathologist.
Objectives: To emphasize the importance of close collaboration between clinicians and pathologists in case of problematic melanocytic lesions.
Patients: We report and discuss 5 problematic scenarios of melanocytic lesions, including tumoral melanosis, nevoid melanoma, lentiginous melanoma, spitzoid melanoma and BAPoma that may pose diagnostic difficulties in our practice. Read More
Mol Genet Genomic Med 2018 Nov 8. Epub 2018 Nov 8.
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
Background: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder with variable expression and nearly complete penetrance. PTCH1 is the major susceptibility locus and has no known hot spots or genotype-phenotype relationships.
Methods: We evaluated 18 NBCCS National Cancer Institute (NCI) families plus PTCH1 data on 333 NBCCS disease-causing mutations (DM) reported in the Human Gene Mutation Database (HGMD). Read More
Am J Clin Dermatol 2018 Nov;19(Suppl 1):15-23
Department of Dermatology, Universidad del Desarrollo, Clínica Alemana, Manquehue Norte 1410, Vitacura, Santiago, Chile.
This review presents the main challenges encountered when diagnosing unusual variants of malignant melanoma with the aim of raising awareness to allow application of the most appropriate treatment strategies. Although these melanomas are often rare, their misdiagnosis potentially jeopardizes patients' health and survival, and has medicolegal implications. The clinical and histologic presentations of melanoma vary greatly, and assessment of uncommon melanomas can be difficult for practitioners because of their scarcity and resemblance to other dermatologic entities. Read More
Case Rep Dent 2018 19;2018:7594840. Epub 2018 Sep 19.
Department of Maxillofacial Surgery, University Medical Center, Göttingen, Germany.
Background: We report a case of multiple keratocysts first diagnosed in an 8-year-old boy.
Case Report: The incidental radiographic finding of a cystic lesion in an 8-year-old boy led to the surgical enucleation and further diagnosis of a keratocyst associated with a tooth crown. In the course of dental maturation from deciduous to permanent teeth, the boy presented new lesions, always associated with the crowns of teeth. Read More
J Cutan Pathol 2018 Dec 5;45(12):891-896. Epub 2018 Oct 5.
Department of Pathology and Dermatopathology, Southern California Permanente Medical Group, Kaiser Permanente Los Angeles Medical Center, Los Angeles, California.
Background: Hormonal changes in pregnancy are known to alter melanocytic lesions, with some nevi noted to have increased mitotic figures and increased Ki-67 proliferation index. Additionally, cytomorphologic changes have also been noted, referred to as superficial micronodules of pregnancy. These changes may alarm the pathologist for malignancy, particularly nevoid melanoma. Read More
Rom J Morphol Embryol 2018 ;59(2):427-433
Department of Pathology, Department of Plastic Surgery, University Emergency Hospital, Bucharest, Romania;
Basal cell carcinoma (BCC) represents the most common skin malignancy, which has been linked over time to multifactorial causes. It usually occurs on sun-exposed areas in people with fair skin and with predilection for men. BCC usually affects elderly patients and has an extremely wide range of histological subtypes, which can present clinically under different variants, some with really challenging differentials. Read More
Pediatr Dermatol 2018 Nov 28;35(6):e396-e397. Epub 2018 Aug 28.
Department of Dermatology, College of Medicine, Drexel University, Philadelphia, Pennsylvania.
Basaloid follicular hamartoma is a relatively rare benign neoplasm of follicular origin that can be mistaken histologically for basal cell carcinoma, but hereditary forms of basaloid follicular hamartoma are associated with nevoid basal cell carcinoma syndrome, or Gorlin syndrome. The pathophysiology of basaloid follicular hamartoma development involves mutations in the patched gene, which is also causative in nevoid basal cell carcinoma syndrome. We present a mother and daughter with basaloid follicular hamartomas, with genetic testing confirming patched gene mutation in the daughter. Read More
Mol Syndromol 2018 Jul 19;9(4):219-223. Epub 2018 May 19.
Division of Human Genetics.
Pediatric cardiac tumors are rare and often benign with an incidence of approximately 0.03-0.32% and can be associated with genetic conditions. Read More
JAAD Case Rep 2018 Aug 8;4(7):662-664. Epub 2018 Aug 8.
CHU de Quebec-Universite Laval, Quebec City, Quebec, Canada.
Insights Imaging 2018 Oct 31;9(5):883-897. Epub 2018 Jul 31.
Department of Clinical-Surgical, Diagnostic and Pediatric Sciences, University of Pavia, Pavia, Italy.
The latest (4th) edition of the World Health Organization (WHO) Classification of Head and Neck Tumours, published in January 2017, has reclassified keratocystic odontogenic tumour as odontogenic keratocyst. Therefore, odontogenic keratocysts (OKCs) are now considered benign cysts of odontogenic origin that account for about 10% of all odontogenic cysts. OKCs arise from the dental lamina and are characterised by a cystic space containing desquamated keratin with a uniform lining of parakeratinised squamous epithelium. Read More
Radiol Oncol 2018 Jun 24;52(2):220-228. Epub 2018 Jan 24.
Institute of Pathology, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.
Background: Sclerosing melanocytic lesions, which are characterized by either focal or diffuse sclerosis in the dermal component and atypical proliferation of predominantly nevoid melanocytes, remain poorly defined. Our aim was to analyze systematically their morphologic spectrum, especially the distinction between sclerosing melanocytic nevus and sclerosing melanoma, which has not been well documented.
Patients And Methods: We collected 90 sclerosing melanocytic lesions, occurring in 82 patients (49 male, 33 female; age range from 21 to 89 years). Read More
Dermatopathology (Basel) 2018 Apr-Jun;5(2):58-63. Epub 2018 May 22.
Department of Dermatology, Lokmanya Tilak Municipal Medical College (LTMMC) and Sion General Hospital, Mumbai, India.
Background: Steatocystoma multiplex is a benign skin disorder originating from the sebaceous and nevoid ducts. Commonly classified under hamartomas, they are distributed over the trunk, neck, axillae, and groin.
Methods: A 28-year-old male patient complained of multiple, asymptomatic skin-colored nodules over the face of 10-year duration. Read More
Pediatr Dermatol 2018 Sep 4;35(5):e316-e318. Epub 2018 Jul 4.
Dermatology Department, Dorset County Hospital, Dorchester, United Kingdom.
BRCA1-associated protein 1(BAP1) inactivated melanocytic nevi are pink to tan and dome-shaped in clinical appearance, resembling dermal nevi, but with distinct histologic features of two melanocytic subpopulations: larger atypical melanocytes and nests of smaller, blander nevoid melanocytes. Pedigrees with BAP1 mutations are at greater risk of various malignancies. We report the case of a 16-year-old boy with multiple benign-appearing nevi, all demonstrating loss of BAP1 on immunohistochemistry. Read More
J Korean Assoc Oral Maxillofac Surg 2018 Jun 26;44(3):107-111. Epub 2018 Jun 26.
Institute of Translational Dental Sciences, Pusan National University, Yangsan, Korea.
Objectives: A keratocystic odontogenic tumor (KOT) is a type of odontogenic tumor that mainly occurs in the posterior mandible. Most KOTs appear as solitary lesions; however, they sometimes occur as multiple cysts. This study analyzed the clinical features of multiple KOTs. Read More
J Oral Biol Craniofac Res 2018 May-Aug;8(2):143-146. Epub 2018 Feb 1.
Department of Oral and Maxillofacial Surgery, Luton and Dunstable University Hospital, Lewsey Road, Luton, LU4 0DZ, United Kingdom.
Focal Dermal Hypoplasia (FDH) or Goltz-Gorlin syndrome is an unusual X-linked dominant syndrome characterised by anomalies of both ectodermal and mesodermal structures. We present a case report on the management of a 58 year old Caucasian male with Focal Dermal Hypoplasia. This report describes an additional clinical manifestation of an intraosseous mandibular lipoma, which has not been previously described in cases of FDH. Read More
Pediatr Dermatol 2018 Jul 25;35(4):e245-e247. Epub 2018 May 25.
Departments of Maxillofacial and Plastic Surgery, Necker Children Hospital, Assistance Publique-Hôpitaux de Paris, University Paris 5, Paris, France.
This article presents the case of a child presenting with a rhabdomyosarcoma associated with a fetal rhabdomyoma in the setting of nevoid basal cell carcinoma syndrome. Oncologic strategy is discussed. Read More
J Clin Aesthet Dermatol 2018 May 1;11(5):43-47. Epub 2018 May 1.
Dr. Tas is with the Health Sciences University, Istanbul Bagcilar Research and Training Hospital, Department of Dermatology in Istanbul, Turkey.
We present the case of a 15-year-old girl who presented with an unusual grouping of lesions on her upper left leg. The lesions had been present since birth. The patient had five different types of lesions: 1) transparent grouped or scattered yellowish vesicles; 2) keratotic-surfaced, grouped dark-yellowish papules; 3) bright-red grouped papules; 4) keratotic-surfaced grouped dark-red papules; and 5) patchy, punctate, and erythematous red macules. Read More
Insights Imaging 2018 May 15. Epub 2018 May 15.
Division of Radiology, Department of Imaging and Medical Informatics, Geneva University Hospitals, Rue Gabrielle-Perret-Gentil 4, 1211, Geneva 14, Switzerland.
Although rare, masses and mass-like lesions of developmental and genetic origin may affect the paediatric craniofacial skeleton. They represent a major challenge in clinical practice because they can lead to functional impairment, facial deformation and disfigurement. The most common lesions include fibrous dysplasia, dermoid cysts, vascular malformations and plexiform neurofibromas. Read More
Appl Immunohistochem Mol Morphol 2018 May 4. Epub 2018 May 4.
Institut d'Investigacions Biomèdiques Agustí Pi i Sunyer (IDIBAPS).
Neurosurgery 2018 Dec;83(6):1107-1118
Vivian L. Smith Department of Neurosurgery, University of Texas Health Science Center at Houston, Texas.
Currently, there is an incomplete understanding of the molecular pathogenesis of meningiomas, the most common primary brain tumor. Several familial syndromes are characterized by increased meningioma risk, and the genetics of these syndromes provides mechanistic insight into sporadic disease. The best defined of these syndromes is neurofibromatosis type 2, which is caused by a mutation in the NF2 gene and has a meningioma incidence of approximately 50%. Read More
Am J Surg Pathol 2018 May;42(5):595-603
Departement of Biopathology, Centre Leon Bérard, Lyon.
Melanocytic tumors rarely display extensive dermal myxoid deposits except in the myxoid variant of melanoma. We describe in 4 patients the unusual association of morphologic and genetic features. All cases occurred in males and were located on the limbs or proximal girdle area. Read More
Dermatol Ther 2018 Jul 6;31(4):e12602. Epub 2018 Apr 6.
Department of Medical, Surgical and Neurological Science, Dermatology Section, University of Siena, S. Maria alle Scotte Hospital, Siena, Italy.
J Craniofac Surg 2018 Sep;29(6):1588-1590
Dental School, State University of Western Paraná (UNIOESTE), Cascavel, Brazil.
Nevoid Basal Cell Carcinoma Syndrome (NBCCS), also known as Gorlin syndrome, is a rare autosomal dominant disorder, with no gender predilection. Individuals with NBCCS are commonly diagnosed between 17 and 35 years old and can present multiple basal cell carcinomas scattered throughout the body, presence of recurrent and early-onset odontogenic keratocysts (OKCs) and skeletal abnormalities. This article describes a case of a 13-year-old white boy who referred complaining of facial asymmetry. Read More
J Clin Aesthet Dermatol 2018 Mar 1;11(3):39-41. Epub 2018 Mar 1.
Dr. Segars is with NSU-COM/Largo Medical Center Dermatology Residency in Largo, Florida.
Basaloid follicular hamartoma (BFH) is a rare, benign neoplasm of the hair follicle, characterized by multiple brown papules involving the face, scalp, and trunk. It is described by multiple clinical forms, and can present as localized or generalized. Diagnosis is made histologically via biopsy, which is important in order to distinguish BFH from basal cell carcinoma (BCC) or other malignant epithelial neoplasms. Read More
Clin Oral Investig 2018 Mar 21. Epub 2018 Mar 21.
Department of Stomatology, School of Dentistry, University of Sao Paulo, Av. Prof. Lineu Prestes 2227 (Butantã), São Paulo, 03178-200, Brazil.
Aims: The aim of this study was to compare the clinical and demographic features of 62 patients presenting sporadic odontogenic keratocysts (OKCs) or OKCs associated with nevoid basal cell carcinoma syndrome (NBCCS). In conjunction with this, we also evaluated the immunohistochemical expression of Shh, Ptch1, Ptch2, Smo, Gli1, Gli2 and Gli3 proteins in 86 OKCs. By doing this, we add to the understanding of the biology of this type of lesion, providing tools that will help facilitate the early diagnosis of NBCCS in those patients where the first manifestation is that of OKCs. Read More
Cytogenet Genome Res 2018 16;154(2):57-61. Epub 2018 Mar 16.
Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, Turkey.
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare multisystemic autosomal dominant disorder typically presenting with cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. NBCCS is caused by heterozygous mutations in the PTCH1 gene in chromosome 9q22, in the PTCH2 gene in 1p34, or the SUFU gene in 10q24.32. Read More
J Craniofac Surg 2018 Sep;29(6):e530-e531
State University of Maringá, Maringá, Brazil.
Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant inherited disorder with high penetrance and variable expressivity. The classic triad originally described by Gorlin and Goltz in 1960 is composed of multiple nevoid basal cell carcinomas (NBCCs), odontogenic keratocysts (OKCs) in the jaws and bifid ribs. in 1977, this triad was modified by Rayner et al, and to GGS diagnosis, the OKCs had to appear in combination with calcification of the cerebellar falx or palmar and plantar pits. Read More
Orphanet J Rare Dis 2018 Mar 5;13(1):39. Epub 2018 Mar 5.
Department of Dermatology and Allergy Centre, J.B. Winsløws Vej 4 , Entrance 142, 5000, Odense C, Denmark.
Background: Pigmentary mosaicism is a term that describes varied patterns of pigmentation in the skin caused by genetic heterogeneity of the skin cells. In a substantial number of cases, pigmentary mosaicism is observed alongside extracutaneous abnormalities typically involving the central nervous system and the musculoskeletal system. We have compiled information on previous cases of pigmentary mosaicism aiming to optimize the handling of patients with this condition. Read More
J Oral Maxillofac Pathol 2018 Jan;22(Suppl 1):S20-S23
Department of Oral and Maxillofacial Surgery, Bharati Vidyapeeth (Deemed to be University) Dental College and Hospital, Sangli, Maharashtra, India.
Orthokeratinized odontogenic cyst (OOC) is a relatively rare odontogenic cyst, distinct from odontogenic keratocyst (OKC). In the 4 edition of WHO Classification of Head and Neck Tumors (2017), OOC has been included as a separate entity in the category of developmental odontogenic cysts. It presents as a unilocular radiolucent lesion in the posterior mandible and is frequently related to impacted teeth, thus mimicking dentigerous cyst. Read More
Dermatol Online J 2017 Aug 15;23(8). Epub 2017 Aug 15.
Department of Dermatology, Dermatologist MD PhD, Complejo Hospitalario de Granada, Granada, Spain.
Essential generalized telangiectasia as the result of postcapillary venule dilatation, is characterized by the sudden development of generalized telangiectasias, sometimes involving the conjunctiva. A few pediatric cases have been reported. The main condition in the differential diagnosis includes syndromes with telangiectasia such as hereditary hemorrhagic telangiectasia of Rendu-Osler, unilateral nevoid telangiectasia, and neonatal lupus erythematous. Read More
Virchows Arch 2018 Mar 21;472(3):469-476. Epub 2018 Feb 21.
Département de Biopathologie, Centre Leon Bérard, Lyon, France.
The current classification of melanocytic tumors includes clinical, pathological, and molecular data. A subset of lesions remains difficult to classify according to these complex multilayer schemes. We report two cases of deeply infiltrating melanomas with a sclerosing background. Read More
J Cutan Med Surg 2018 May/Jun;22(3):349-352. Epub 2018 Jan 31.
2 Division of Dermatology, University of Calgary, Calgary, AB, Canada.
J Craniofac Surg 2018 May;29(3):e252-e255
Department of Oral and Maxillofacial Surgery, College of Medicine, University of Ulsan, Seoul Asan Medical Center, Seoul, Korea.
The purpose of this study was to report clinical characteristics, surgical results, and new PTCH1 gene mutations in nevoid basal cell carcinoma syndrome (NBCCS). Five patients were referred to the Department of Oral and Maxillofacial Surgery from local dental clinics between 2006 and 2016 to treat multiple keratocystic odontogenic tumors (KOTs). The cystic lesions were enucleated and peripheral ostectomy was performed to obtain safety margin. Read More
Rev Peru Med Exp Salud Publica 2017 Oct-Dec;34(4):744-750
Facultad de Medicina Humana. Universidad Ricardo Palma. Lima, Perú.
Gorlin syndrome (GS) is a genetic disorder with an autosomal dominant inheritance pattern, with complete penetrance and variable expressivity. GS is caused by germline mutations in the genes PTCH1 or SUFU, which are components of the Sonic hedgehog molecular pathway. GS is characterized by the presence of multiple nevoid basal cell carcinomas, odontogenic cysts, calcification of the brain sickle, and lesions in the palms and soles. Read More
Cutis 2017 Dec;100(6):423-426
Nova Southeastern College of Osteopathic Medicine, Largo Medical Center, Florida, USA.
Nevoid basal cell carcinoma syndrome (NBCCS) is a rare, autosomal-dominant, cancer-predisposing, multisystem disorder. The clinical manifestations of NBCCS include multiple basal cell carcinomas (BCCs), odontogenic keratocysts, palmar or plantar pits, and calcification of the falx cerebri. We present a case of an 11-year-old boy with Fitzpatrick skin type V who presented with multiple facial lesions and a history of maxillary keratocysts. Read More
Ocul Oncol Pathol 2017 Dec 19;4(1):38-43. Epub 2017 Jul 19.
Department of Ophthalmology, Kansai Medical University, Osaka, Japan.
Purpose: Retinal pigment epithelium (RPE) adenocarcinoma is a very rare malignant intraocular tumor. Herein we describe the histopathological features of RPE adenocarcinoma.
Case: A 36-year-old male was referred to our clinic because of floaters in his left eye. Read More
J Eur Acad Dermatol Venereol 2018 Jun 24;32(6):879-888. Epub 2018 Jan 24.
First Department of Dermatology, Aristotle University, Thessaloniki, Greece.
Dermoscopy has been documented to increase the diagnostic accuracy of clinicians evaluating skin tumours, improving their ability to detect skin cancer and better recognize benign moles. However, dermoscopically 'false-positive' and 'false-negative' tumours do exist. False-positive diagnosis usually leads to unnecessary excisions. Read More
Surv Ophthalmol 2018 Sep - Oct;63(5):711-718. Epub 2017 Dec 27.
Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA; Ophthalmic Plastic and Reconstructive Surgery Service, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.
A 38-year-old woman presented with multiple bilateral recurrent eyelid cysts. Her medical history was notable for Gorlin (nevoid basal cell carcinoma) syndrome. Histopathologic and immunohistochemical examinations revealed that the lesions were intratarsal keratinous cysts. Read More
Anticancer Res 2018 01;38(1):471-476
Dermatology Unit, Surgical, Medical and Dental Department of Morphological Sciences related to Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy.
Background/aim: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominantly inherited disorder characterized by multiple basal cell carcinomas (BCC), odontogenic tumors and various skeletal anomalies. Basaloid follicular hamartomas (BFHs) constitute rare neoplasms that can be detected in sporadic and familial settings as in the Basaloid Follicular Hamartoma Syndrome (BFHS). Although BFHS shares clinical, histopathological and genetic overlapping with the NBCCS, they are still considered two distinctive entities. Read More
J Oral Pathol Med 2018 Feb 11;47(2):186-191. Epub 2018 Jan 11.
Department of Pathology, Biological Sciences Institute, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil.
Background: Mutations in the patched 1 (PTCH1) gene are the main genetic alteration reported in sporadic and nevoid basal cell carcinoma-associated odontogenic keratocyst (OKC). Oncogenic mutations, including BRAFV600E, previously considered exclusive of malignant neoplasms have been reported in odontogenic tumors. Recently, a high frequency of BRAFV600E mutation has been reported in OKC. Read More
Braz Oral Res 2017 Dec 18;31:e98. Epub 2017 Dec 18.
Universidade de São Paulo - USP, School of Dentistry, Department of Oral & Maxillofacial Surgery, Traumatology and Prosthesis, São Paulo, SP, Brazil.
The odontogenic keratocyst (OKC) is a recurrent cyst that has been recently reclassified from an odontogenic tumor to an odontogenic cyst. The aim of the present study was to investigate its treatment and address issues related to its association with nevoid basal cell carcinoma syndrome (NBCCS). Lesions from the cohort of patients included in the present study consisted of 40 OKCs, of which 27 lesions were treated by enucleation (GE) and 13 underwent decompression (GD). Read More
Neuro Oncol 2018 Jul;20(8):1122-1132
Département de Cancérologie de l'Enfant et de l'Adolescent, Gustave Roussy, Université Paris-Saclay, Villejuif, France.
Background: Germline mutations of suppressor of fused homolog (SUFU) predispose to sonic hedgehog (SHH) medulloblastoma. Germline SUFU mutations have been reported in nevoid basal cell carcinoma syndrome (NBCCS), but little is known about the cancer risk and clinical spectrum.
Methods: We performed a retrospective review of all patients with medulloblastoma and a germline SUFU mutation in France. Read More
Exp Mol Pathol 2017 12 21;103(3):279-287. Epub 2017 Nov 21.
Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Geisel School of Medicine at Dartmouth, Lebanon, NH, United States. Electronic address:
Histopathology is the gold standard for diagnosing melanocytic lesions; however, distinguishing benign versus malignant is not always clear histologically. Single nucleotide polymorphism (SNP) microarray analysis may help in making a definitive diagnosis. Here, we share our experience with the Oncoscan FFPE Assay and demonstrate its diagnostic utility in the context of ambiguous melanocytic lesions. Read More
JAAD Case Rep 2017 Nov 6;3(6):505-508. Epub 2017 Nov 6.
Dermatology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.
J Oral Maxillofac Surg 2018 Apr 13;76(4):770-774. Epub 2017 Oct 13.
Professor, Department of Oral Pathology, School of Dentistry, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. Electronic address:
Purpose: We hypothesized that fragmentation of the cystic capsule during surgery would influence the recurrence rate of odontogenic keratocysts (OKCs) regardless of the treatment modality chosen.
Materials And Methods: We reviewed, in a retrospective study, cases diagnosed as OKCs on histopathologic examination at the oral pathology department between 1991 and 2013. Fragmentation data were obtained from the records of the oral surgical department. Read More
Cancer Biomark 2017 Dec;21(1):161-168
Background: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease with a complex genetic etiology. Although three causative genes (PTCH1, PTCH2, SUFU) have been identified through linkage analysis and Sanger sequencing, the genetic background of NBCCS hasn't been fully understood.
Methods: We performed a whole-exome sequencing (WES) in a Han Chinese NBCCS family and two unaffected volunteers to search for its causative gene. Read More