1,362 results match your criteria de Lange Syndrome

Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect.

Nat Commun 2021 05 25;12(1):3127. Epub 2021 May 25.

MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Crewe Road, Edinburgh, UK.

Cornelia de Lange syndrome is a multisystem developmental disorder typically caused by mutations in the gene encoding the cohesin loader NIPBL. The associated phenotype is generally assumed to be the consequence of aberrant transcriptional regulation. Recently, we identified a missense mutation in BRD4 associated with a Cornelia de Lange-like syndrome that reduces BRD4 binding to acetylated histones. Read More

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Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin.

Nat Commun 2021 05 18;12(1):2919. Epub 2021 May 18.

Lymphocyte Development Group, Epigenetics Section, MRC London Institute of Medical Sciences, Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, UK.

Cornelia de Lange Syndrome (CdLS) is a human developmental disorder caused by mutations that compromise the function of cohesin, a major regulator of 3D genome organization. Cognitive impairment is a universal and as yet unexplained feature of CdLS. We characterize the transcriptional profile of cortical neurons from CdLS patients and find deregulation of hundreds of genes enriched for neuronal functions related to synaptic transmission, signalling processes, learning and behaviour. Read More

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Dead space estimates may not be independently associated with 28-day mortality in COVID-19 ARDS.

Crit Care 2021 05 17;25(1):171. Epub 2021 May 17.

Department of Intensive Care & Laboratory of Experimental Intensive Care and Anaesthesiology (L·E·I·C·A), Amsterdam UMC Location AMC, Amsterdam, The Netherlands.

Background: Estimates for dead space ventilation have been shown to be independently associated with an increased risk of mortality in the acute respiratory distress syndrome and small case series of COVID-19-related ARDS.

Methods: Secondary analysis from the PRoVENT-COVID study. The PRoVENT-COVID is a national, multicenter, retrospective observational study done at 22 intensive care units in the Netherlands. Read More

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ANKRD11 variants: KBG syndrome and beyond.

Clin Genet 2021 May 5. Epub 2021 May 5.

Centro Fondazione Mariani per il Bambino Fragile ASST-Lariana Sant'Anna Hospital, Department of Pediatrics, San Fermo della Battaglia (Como), Italy.

Mutations affecting the transcriptional regulator Ankyrin Repeat Domain 11 (ANKRD11) are mainly associated with the multisystem developmental disorder known as KBG syndrome, but have also been identified in individuals with Cornelia de Lange syndrome (CdLS) and other developmental disorders caused by variants affecting different chromatin regulators. The extensive functional overlap of these proteins results in shared phenotypical features, which complicate the assessment of the clinical diagnosis. Additionally, re-evaluation of individuals at a later age occasionally reveals that the initial phenotype has evolved toward clinical features more reminiscent of a developmental disorder different from the one that was initially diagnosed. Read More

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Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents' associations.

Ital J Pediatr 2021 Apr 19;47(1):94. Epub 2021 Apr 19.

Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties "G. D'Alessandro", University of Palermo, Palermo, Italy.

Background: Genetic diseases are chronic conditions with relevant impact on the lives of patients and their families. In USA and Europe it is estimated a prevalence of 60 million affected subjects, 75% of whom are in developmental age. A significant number of newborns are admitted in the Neonatal Intensive Care Units (NICU) for reasons different from prematurity, although the prevalence of those with genetic diseases is unknown. Read More

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Right ventricular outflow tract stenting in symptomatic infants without the use of a long delivery sheath.

Catheter Cardiovasc Interv 2021 Apr 14. Epub 2021 Apr 14.

Department of Cardiology, Children's Health Ireland at Crumlin, Dublin, Ireland.

Background And Objectives: Right ventricular outflow tract (RVOT) stenting improves systemic oxygenation and facilitates pulmonary arterial growth in symptomatic infants prior to repair of tetralogy of Fallot. The aim of this study was to evaluate the safety and efficacy of RVOT stenting without the use of a long delivery sheath.

Methods: Retrospective data analysis of patients under 1 year of age undergoing RVOT stenting from January 2010 to January 2020 at a single tertiary pediatric cardiology center. Read More

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Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report.

Mol Syndromol 2021 Mar 1;12(1):46-51. Epub 2020 Dec 1.

Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.

Wiedemann-Steiner syndrome (WDSTS) is a rare autosomal dominant disorder with a variable clinical phenotype including synophrys, hypertelorism, thick eyebrows, long eyelashes, wide nasal bridge, long philtrum, hypertrichosis, growth retardation, and intellectual disability. Cornelia de Lange syndrome (CdLS) is a rare disease characterized by synophrys, long eyelashes, limb abnormalities, generalized hirsutism, growth retardation, and intellectual disability. In both WDSTS and CdLS, the malformations are due to transcriptome disturbance caused by defects in the genes encoding the components of chromatin regulation and transcription process. Read More

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[SAPHO syndrome : An overview and nosological differentiation of 35 disease cases].

Z Rheumatol 2021 Jun 16;80(5):456-466. Epub 2021 Mar 16.

Abt. für Rheumatologie, klinische Immunologie, Osteologie und Physikalische Medizin, Kerckhoff-Klinik GmbH, Campus Kerckhoff der Justus-Liebig-Universität Gießen, Benekestr. 2-8, 61231, Bad Nauheim, Deutschland.

The SAPHO syndrome is not a single entity but an inhomogeneous, nosologically heterogeneous complex of symptoms with unknown etiology and heterogeneous pathogenesis. Clinically subacute, recurrent or chronic disease processes and a common skin-bone association (skibo disease) can be found. Under the acronym SAPHO, chronically recurrent multifocal osteomyelitis (CRMO) is the most common disease that can occur in youth as well as adolescence. Read More

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Low speech rate but high gesture rate during conversational interaction in people with Cornelia de Lange syndrome.

J Intellect Disabil Res 2021 Jun 10;65(6):601-607. Epub 2021 Mar 10.

Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.

Background: Cornelia de Lange syndrsome (CdLS) is a rare genetic syndrome with notable impaired expressive communication characterised by reduced spoken language. We examined gesture use to refine the description of expressive communication impairments in CdLS.

Methods: During conversations, we compared gesture use in people with CdLS to peers with Down syndrome (DS) matched for receptive language and adaptive ability, and typically developing (TD) individuals of similar chronological age. Read More

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A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome.

NPJ Genom Med 2021 Mar 4;6(1):21. Epub 2021 Mar 4.

Cardiovascular Genetics, Health in Code, A Coruña, Spain.

Here we report an infant with clinical findings suggestive of Jervell and Lange-Nielsen syndrome (JLNS), including a prolonged QT interval (LQTS) and chronic bilateral sensorineural deafness. NGS analysis revealed one known heterozygous pathogenic missense variant, KCNQ1 p.R259L, previously associated with LQTS but insufficient to explain the cardioauditory disorder. Read More

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Case Report: Prenatal Whole-Exome Sequencing to Identify a Novel Heterozygous Synonymous Variant in NIPBL in a Fetus With Cornelia de Lange Syndrome.

Front Genet 2021 9;12:628890. Epub 2021 Feb 9.

Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, China.

Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder characterized by a wide spectrum of abnormalities, including craniofacial dysmorphism, upper limb anomalies, pre- and post-natal growth restrictions, hirsutism and intellectual disability. Approximately 60% of cases are caused by variants. Herein we report on a prenatal case presented with bilateral upper-extremity malformations and cardiac defects. Read More

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February 2021

Sleep disorders in rare genetic syndromes: a meta-analysis of prevalence and profile.

Mol Autism 2021 02 25;12(1):18. Epub 2021 Feb 25.

School of Psychology, University of Birmingham, Birmingham, B15 2TT, UK.

Background: Sleep disorders are common in people with intellectual disability (ID) and autism, with growing evidence of diverse sleep profiles across ID associated genetic syndromes. Documenting the prevalence and profile of specific sleep disorders in syndromes will quantify syndrome-driven 'risk', inform prognosis and enhance understanding of aetiology of sleep disorders.

Method: Following PRISMA guidelines for meta-analysis, we searched Ovid PsycINFO, Ovid MEDLINE, Ovid Embase, Web of Science and PubMed Central with use of syndrome-specific keywords and 60 sleep-related search terms. Read More

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February 2021

Temporal changes in the epidemiology, management, and outcome from acute respiratory distress syndrome in European intensive care units: a comparison of two large cohorts.

Crit Care 2021 02 25;25(1):87. Epub 2021 Feb 25.

Department of Medical and Surgical Science, Anesthesia and Intensive Care, Policlinico di Sant'Orsola, Alma Mater, University of Bologna, Bologna, Italy.

Background: Mortality rates for patients with ARDS remain high. We assessed temporal changes in the epidemiology and management of ARDS patients requiring invasive mechanical ventilation in European ICUs. We also investigated the association between ventilatory settings and outcome in these patients. Read More

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February 2021

Dental Management of a Patient with Special Health Care Needs.

Case Rep Dent 2021 3;2021:6692325. Epub 2021 Feb 3.

Mário Palmério University Hospital, University of Uberaba, Uberaba, Minas Gerais, Brazil.

Patients with special health care needs (PSHCN) may have an increased risk of oral disease throughout the course of their life and require particular delivery of dental care due to their medical condition or limitations. The purpose is to report the dental management of a patient with Cornelia de Lange Syndrome (CdLS), which was classified as PSHCN due to physical, behavioural, cognitive, and emotional impairment. A 14-year-old female with a clinical diagnosis of CdLS and its common craniofacial features such as microcephaly, short neck, synophrys, arched eyebrows, downturned angle of the mouth, high arched palate, micrognathia, and microdontia was referred to the hospital where the dental treatment was performed under general anesthesia. Read More

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February 2021

Case Report: Endogenous Candida Endophthalmitis in Cornelia de Lange Syndrome: Atypical Stellate Neuroretinitis.

Optom Vis Sci 2021 02;98(2):104-108

Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida.

Significance: This study aimed to highlight the association of stellate neuroretinitis occurring secondary to endogenous candidemia.

Purpose: We report an unusual presentation of endogenous Candida endophthalmitis as a stellate neuroretinitis in the setting of Cornelia de Lange syndrome.

Case Report: A 34-month-old girl with severe Cornelia de Lange syndrome and a history of parenteral nutrition dependence requiring a chronic central venous catheter presented with bilateral endophthalmitis secondary to candidemia. Read More

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February 2021

Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome.

Cell Death Discov 2021 Feb 17;7(1):34. Epub 2021 Feb 17.

Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.

Cornelia de Lange Syndrome (CdLS) is a rare developmental disorder affecting a multitude of organs including the central nervous system, inducing a variable neurodevelopmental delay. CdLS malformations derive from the deregulation of developmental pathways, inclusive of the canonical WNT pathway. We have evaluated MRI anomalies and behavioral and neurological clinical manifestations in CdLS patients. Read More

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February 2021

A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation.

Diagnostics (Basel) 2021 Jan 19;11(1). Epub 2021 Jan 19.

Filantropia Clinical Hospital, 11171 Bucharest, Romania.

Cornelia de Lange syndrome (CDLS) is caused by pathogenic variants in genes which are structural or regulatory components of the cohesin complex. The classical Cornelia de Lange (CDLS) phenotype is characterized by distinctive facial features, growth retardation, upper limb reduction defects, hirsutism, and developmental delay. Non-classical phenotypes make this condition heterogeneous. Read More

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January 2021

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.

Genet Med 2021 05 20;23(5):881-887. Epub 2021 Jan 20.

Duke University Health System, Durham, NC, USA.

Purpose: Neurodevelopmental disorders (NDDs) encompass a spectrum of genetically heterogeneous disorders with features that commonly include developmental delay, intellectual disability, and autism spectrum disorders. We sought to delineate the molecular and phenotypic spectrum of a novel neurodevelopmental disorder caused by variants in the GNAI1 gene.

Methods: Through large cohort trio-based exome sequencing and international data-sharing, we identified 24 unrelated individuals with NDD phenotypes and a variant in GNAI1, which encodes the inhibitory Gαi1 subunit of heterotrimeric G-proteins. Read More

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[Phenotypic and mutation analysis of a fetus with Cornelia de Lange syndrome Ⅰ].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Jan;38(1):67-70

Department of Gynecology and Obstetrics, Shengjing Hospital of China Medical University, Shenyang, Liaoning 110004, China.

Objective: To carry out genetic testing for an abortus suspected with Cornelia de Lange syndrome (CdLS).

Methods: History of gestation and the family was taken. Combined with prenatal ultrasonography and the phenotype of the abortus, a diagnosis was made for the proband. Read More

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January 2021

Secondary hemophagocytic lymphohistiocytosis and severe liver injury induced by hepatic SARS-CoV-2 infection unmasking Wilson's disease: Balancing immunosuppression.

Int J Infect Dis 2021 Feb 4;103:624-627. Epub 2021 Jan 4.

Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Regensburg, Regensburg, Germany.

A 21-year-old woman was hospitalized due to coronavirus disease 2019 (COVID-19)-associated respiratory and hepatic impairment concomitant with severe hemolytic anemia. Upon diagnosis of secondary hemophagocytic lymphohistiocytosis, immunosuppression with anakinra and steroids was started, leading to a hepatic severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and viremia. Subsequent liver biopsy revealed virus particles in hepatocytes by electron microscopy and SARS-CoV-2 virus could be isolated and cultured. Read More

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February 2021

Clinical Impact of Inherited and Acquired Genetic Variants in Mastocytosis.

Int J Mol Sci 2021 Jan 2;22(1). Epub 2021 Jan 2.

Ludwig Boltzmann Institute for Hematology and Oncology, Medical University of Vienna, 1090 Vienna, Austria.

Mastocytosis is a rare and complex disease characterized by expansion of clonal mast cells (MC) in skin and/or various internal organ systems. Involvement of internal organs leads to the diagnosis of systemic mastocytosis (SM). The WHO classification divides SM into indolent SM, smoldering SM and advanced SM variants, including SM with an associated hematologic neoplasm, aggressive SM, and MC leukemia. Read More

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January 2021

A rare cause of midbrain haemorrhage.

Eur J Neurol 2021 Mar 30;28(3):e22-e24. Epub 2020 Dec 30.

Department of Neurology, Montpellier University Hospital Gui de Chauliac, Montpellier, France.

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Structural analysis of histone deacetylase 8 mutants associated with Cornelia de Lange Syndrome spectrum disorders.

J Struct Biol 2021 03 11;213(1):107681. Epub 2020 Dec 11.

Roy and Diana Vagelos Laboratories, Department of Chemistry, University of Pennsylvania, 231 South 34(th) Street, Philadelphia, PA 19104-6323, United States. Electronic address:

Cornelia de Lange Syndrome (CdLS) and associated spectrum disorders are characterized by one or more congenital anomalies including distinctive facial features, upper limb abnormalities, intellectual disability, and other symptoms. The molecular genetic basis of CdLS is linked to defects in cohesin, a protein complex that functions in sister chromatid cohesion, chromatin organization, and transcriptional regulation. Histone deacetylase 8 (HDAC8) plays an important role in cohesin function by catalyzing the deacetylation of SMC3, which is required for efficient recycling of the cohesin complex. Read More

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Severe cortical damage associated with COVID-19 case report.

Seizure 2021 Jan 23;84:66-68. Epub 2020 Nov 23.

Paediatric Neurology, Royal London Hospital, Barts Health NHS Trust, Whitechapel Road, Whitechapel, London, E1 1FR United Kingdom.

Symptoms of COVID-19, as reported during the SARS-CoV-2 pandemic in 2019-2020, are primarily respiratory and gastrointestinal, with sparse reports on neurological manifestations. We describe the case of a 17-year old female with Cornelia de Lange syndrome and well controlled epilepsy, who sustained significant cortical injury during a COVID-19 associated multi-inflammatory syndrome. Read More

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January 2021

Behaviour across the lifespan in Cornelia de Lange syndrome.

Curr Opin Psychiatry 2021 Mar;34(2):112-117

School of Psychology, University of Surrey, Guildford, UK.

Purpose Of Review: While previous reviews have extended descriptions of the behavioural phenotype of Cornelia de Lange syndrome (CdLS) significantly, potential changes with age across the lifespan have been neglected. Age-related difference in the behavioural phenotype constitutes preliminary evidence of change with age. Documenting and understanding the developmental trajectories of behaviours is informative as it enables identification of risk periods for behavioural challenges and compromised mental health. Read More

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Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome.

Sci Rep 2020 12 4;10(1):21224. Epub 2020 Dec 4.

Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, 1678 Dongfang Road, Shanghai, 200127, China.

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder, which causes a range of physical, cognitive, and medical challenges. To retrospectively analyze the clinical characteristics and genetic variations of Chinese patients, and to provide experience for further diagnosis and treatment of CdLS in Chinese children, we identified 15 unrelated Chinese children who presented with unusual facial features, short stature, developmental delay, limb abnormalities, and a wide range of health conditions. In this study, targeted-next generation sequencing was used to screen for causal variants and the clinically relevant variants were subsequently verified using Sanger sequencing. Read More

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December 2020

Redistribution of Monocyte Subsets in Obstructive Sleep Apnea Syndrome Patients Leads to an Imbalanced PD-1/PD-L1 Cross-Talk with CD4/CD8 T Cells.

J Immunol 2021 01 2;206(1):51-58. Epub 2020 Dec 2.

Department of Otorhinolaryngology, University Hospital of Schleswig-Holstein, 23538 Lübeck, Germany

Obstructive sleep apnea syndrome (OSAS) represents a substantial disease of recurrent sleep fragmentation, leading to intermittent hypoxia and subsequent diseases such as cardiovascular, metabolic, or cognitive dysfunctions. In addition, OSAS is considered as low-grade systemic inflammation, which is associated with a higher incidence of cancer, severity of infections, and an overall immune dysregulation. This research project aims to comprehensively investigate the interplay of wholesome sleep and the immune functions of circulating monocytes and T cells in OSAS patients, which are known to be affected by oxidative stress. Read More

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January 2021

A case of CHOPS syndrome accompanied with moyamoya disease and systemic vasculopathy.

Brain Dev 2021 Mar 26;43(3):454-458. Epub 2020 Nov 26.

Rare Diseases Center, Seoul National University Hospital, Seoul, South Korea; Division of Clinical Genetics, Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, South Korea. Electronic address:

Background: CHOPS syndrome, caused by a mutation in the AFF4 gene, is a recently established and extremely rare genetic disorder, which has moderate phenotypic overlap with Cornelia de Lange syndrome. The main phenotypes include characteristic facial features, short stature, obesity, skeletal and pulmonary involvement, and neurodevelopmental impairment.

Case Report: We report on a Korean girl with CHOPS syndrome presenting with an atypical manifestation. Read More

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Impact of age and sex correction on the diagnostic performance of dopamine transporter SPECT.

Eur J Nucl Med Mol Imaging 2021 05 31;48(5):1445-1459. Epub 2020 Oct 31.

Department for Diagnostic and Interventional Radiology and Nuclear Medicine, University Hospital Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany.

Purpose: The specific binding ratio (SBR) of I-FP-CIT (FP-CIT) in the putamen decreases with age by about 5% per decade and most likely is about 10% higher in females. However, the clinical utility of age and sex correction of the SBR is still a matter of debate. This study tested the impact of age and sex correction on the diagnostic performance of the putamen SBR in three independent patient samples. Read More

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High-Density Amplicon Sequencing Identifies Community Spread and Ongoing Evolution of SARS-CoV-2 in the Southern United States.

Cell Rep 2020 11 20;33(5):108352. Epub 2020 Oct 20.

Department of Microbiology and Immunology, The University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC 27599, USA; Lineberger Comprehensive Cancer Center, Chapel Hill, NC 27599, USA. Electronic address:

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is constantly evolving. Prior studies focused on high-case-density locations, such as the northern and western metropolitan areas of the United States. This study demonstrates continued SARS-CoV-2 evolution in a suburban southern region of the United States by high-density amplicon sequencing of symptomatic cases. Read More

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November 2020