Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy

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作者： Lee, Jin Sook ^[1] ; Seo, Jieun ^[2] ; Cho, Anna ^[3] ; Lim, Byung Chan ^[4] ; Choi, Murim ^[5] ; Kim, Jung-Wook ^[6] ; Kim, Ok-Hwa ^[7] ; Cho, Tae-Joon ; Chae, Jong-Hee

作者单位： Gachon Univ, Gachon Inst Genome Med & Sci, Dept Pediat, Gil Med Ctr, Incheon, South Korea ^[1] Seoul Natl Univ, Div Pediat Orthopaed, Childrens Hosp, Seoul, South Korea ^[2] Seoul Natl Univ, Sch Dent, Dept Pediat Dent, Seoul, South Korea ^[3] Ewha Womans Univ, Dept Pediat, Sch Med, Seoul, South Korea ^[4] Seoul Natl Univ, Pediat Clin Neurosci Ctr, Childrens Hosp, Dept Pediat,Coll Med, Seoul, South Korea ^[5] Woorisoa Childrens Hosp, Dept Radiol, Seoul, South Korea ^[6] Seoul Natl Univ, Dept Biomed Sci, Coll Med, Seoul, South Korea ^[7]

关键词 Type I collagenopathy COL1A1 Whole-exome sequencing Dysmorphism Osteogenesis imperfecta

发布时间 2018-03-07

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