首页> European journal of medical genetics> Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients.

Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients.

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第一作者： Asma,Hamad

第一单位： West Midlands Genetics Services, Birmingham Women and Childrens NHS Foundation Trust, Birmingham. UK.

作者： Asma,Hamad ^[1] ; Charlotte A,Sherlaw-Sturrock ^[1] ; Kate,Glover ^[1] ; Rachel,Salmon ^[1] ; Karen,Low ^[2] ; Ramya,Nair ^[1] ; Francis H,Sansbury ^[3] ; LettieE,Rawlins ^[4] ; Jenny,Carmichael ^[5] ; Rachael,Horton ^[6] ; Sarah,Wedderburn ^[7] ; Katherine,Edgerley ^[2] ; Rachel,Irving ^[4] ; Mary,Callaghan ^[4] ; Catherine,Mercer ^[6] ; Ruth,McGowan ^[7] ; Leema,Robert ^[8] ; Hannah,Titheradge ^[9] ; Swati,Naik ^[1]

作者单位： West Midlands Genetics Services, Birmingham Women and Childrens NHS Foundation Trust, Birmingham. UK. ^[1] Clinical Genetics Department, University Hospitals Bristol and Weston NHS Foundation Trust St Michael's Hospital, Bristol, UK. ^[2] Clinical Genetics Department, University Hospitals Bristol and Weston NHS Foundation Trust St Michael's Hospital, Bristol, UK; All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, University Hospital of Wales, Cardiff, UK. ^[3] Peninsula Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK. ^[4] Clinical Genetics Department, Oxford Centre for Genomic Medicine, Oxford, UK; Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK. ^[5] Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK. ^[6] West of Scotland Centre for Genomic Medicine, Glasgow, UK. ^[7] Clinical Genetics Department, Guy's and St Thomas' Hospital, London, UK. ^[8] West Midlands Genetics Services, Birmingham Women and Childrens NHS Foundation Trust, Birmingham. UK. Electronic address: h.titheradge.1@bham.ac.uk. ^[9]

关键词 16p13.11 micro duplication Aortic dilatation Congenital heart defect

医学主题词人类(Humans);染色体重复(Chromosome Duplication);前瞻性研究(Prospective Studies);回顾性研究(Retrospective Studies);表型(Phenotype);染色体, 人, 11对(Chromosomes, Human, Pair 11)

DOI 10.1016/j.ejmg.2023.104714

PMID 36724812

发布时间 2023-03-07

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