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首页> Human mutation> Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.

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作者： Marie,Bernkopf ^[1] ; David,Hunt ^[2] ; Nils,Koelling ^[1] ; Tim,Morgan ^[3] ; Amanda L,Collins ^[2] ; Joanna,Fairhurst ^[4] ; Stephen P,Robertson ^[3] ; Andrew G L,Douglas ^[5] ; Anne,Goriely ^[1]

作者单位： Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.;Nuffield Department of Clinical Sciences, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom. ^[1] Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom. ^[2] Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand. ^[3] Paediatric Radiology, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom. ^[4] Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.;Academic Unit of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom. ^[5]

关键词 FLNB Larsen syndrome genetic counseling mosaicism next-generation sequencing sperm

主题词成年人(Adult);遗传咨询(Genetic Counseling);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);男(雄)性(Male);镶嵌现象(Mosaicism);骨软骨发育不良(Osteochondrodysplasias);表型(Phenotype);点突变(Point Mutation);精子(Spermatozoa)

DOI 10.1002/humu.23281

PMID 28639312

发布时间 2024-12-11

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Human mutation

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2017年38卷10期

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