首页> American journal of medical genetics. Part A> Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome.

Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome.

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第一作者： Emily R,Waskow

第一单位： Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.;Texas Children's Hospital, Houston, Texas, USA.

作者： Emily R,Waskow ^[1] ; Undiagnosed Diseases Network ^[2] ; Lisa T,Emrick ^[3] ; Jill A,Rosenfeld ^[3] ; Shamika,Ketkar ^[1] ; Lindsay C,Burrage ^[1] ; Daryl A,Scott

作者单位： Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.;Texas Children's Hospital, Houston, Texas, USA. ^[1] Texas Children's Hospital, Houston, Texas, USA.;Department of Pediatrics, Division of Pediatric Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas, USA. ^[2] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. ^[3]

关键词 DPH1 DEDSSH1 Fine–Lubinsky syndrome RNAseq exome sequencing nonsense mediated mRNA decay