Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series.

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作者： Maxime,Cadieux-Dion ^[1] ; Emily,Farrow ^[2] ; Isabelle,Thiffault ^[3] ; Ana S A,Cohen ^[4] ; Holly,Welsh ^[1] ; Lauren,Bartik ^[3] ; Caitlin,Schwager ^[4] ; Kendra,Engleman ^[1] ; Dihong,Zhou ^[3] ; Lei,Zhang ^[4] ; Elena,Repnikova ^[2] ; Shivarajan M,Amudhavalli ^[3] ; Carol J,Saunders ^[2]

作者单位： Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA. ^[1] Department of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri, USA. ^[2] University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA. ^[3] Genomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, USA. ^[4]

关键词 JARID2 clinical genetics intellectual disability molecular diagnosis

主题词孤独性障碍(Autistic Disorder);DNA拷贝数变异(DNA Copy Number Variations);外显子(Exons);人类(Humans);表型(Phenotype)

DOI 10.1111/cge.14149

PMID 35533077

发布时间 2022-09-18

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