Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.-论文-万方医学网

第一作者： Ruth,Cleaver

第一单位： South West Thames Regional Genetics Service, St. George's University Hospitals NHS Foundation Trust, London, United Kingdom.;Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.

作者： Ruth,Cleaver ^[1] ; Jonathan,Berg ^[2] ; Emily,Craft ^[3] ; Alison,Foster ^[4] ; Richard J,Gibbons ^[5] ; Emma,Hobson ^[6] ; Katherine,Lachlan ^[7] ; Swati,Naik ^[4] ; Julian R,Sampson ^[8] ; Saba,Sharif ^[4] ; Sarah,Smithson ^[9] ; Deciphering Developmental Disorders Study ^[10] ; Michael J,Parker ^[11] ; Katrina,Tatton-Brown ^[12]

作者单位： South West Thames Regional Genetics Service, St. George's University Hospitals NHS Foundation Trust, London, United Kingdom.;Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom. ^[1] East of Scotland Regional Genetics Service, Dundee, United Kingdom. ^[2] Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester, United Kingdom. ^[3] West Midlands Regional Genetics Service, Birmingham, United Kingdom. ^[4] Oxford Centre for Genomic Medicine, Oxford, United Kingdom. ^[5] Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom. ^[6] Wessex Clinical Genetics Service, Southampton, United Kingdom.;Department of Human Genetics and Genomic Medicine, Southampton University, Southampton, United Kingdom. ^[7] Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University, Cardiff, United Kingdom. ^[8] Clinical Genetics Service, University Hospitals Bristol, Bristol, United Kingdom. ^[9] Deciphering Developmental Disorders Study, Wellcome Trust Sanger Institute, Cambridge, United Kingdom. ^[10] Sheffield Children's NHS Foundation Trust, Sheffield Clinical Genetics Service, Sheffield, South Yorkshire, United Kingdom. ^[11] South West Thames Regional Genetics Service, St. George's University Hospitals NHS Foundation Trust, London, United Kingdom.;St. George's University of London, London, United Kingdom. ^[12]

医学主题词畸形, 多发性(Abnormalities, Multiple);钙质沉着症(Calcinosis);儿童(Child);儿童, 学龄前(Child, Preschool);耳疾病(Ear Diseases);面容(Facies);女(雌)性(Female);遗传关联研究(Genetic Association Studies);基因座(Genetic Loci);疾病遗传易感性(Genetic Predisposition to Disease);遗传变异(Genetic Variation);基因型(Genotype);人类(Humans);磁共振成像(Magnetic Resonance Imaging);男(雄)性(Male);肌萎缩(Muscular Atrophy);突变(Mutation);神经组织蛋白质类(Nerve Tissue Proteins);表型(Phenotype);转录因子(Transcription Factors)

DOI 10.1002/ajmg.a.61024

PMID 30637921

发布时间 2020-09-30

基金项目

National Institute for Health Research/International WT_/Wellcome Trust/United Kingdom

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Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.

American journal of medical genetics. Part A

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American journal of medical genetics. Part A

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Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.

American journal of medical genetics. Part A

相似文献

同项目论文

American journal of medical genetics. Part A

相关期刊

检索历史清除