张力减退
外显子组测序
外显子组
遗传诊断
医学
遗传学
生物
计算生物学
突变
基因
作者
Sarah U. Morton,Gregory Costain,Courtney E. French,Emma Wakeling,Anna Szuto,John Christodoulou,Ronald D. Cohn,Basil T. Darras,Monica H. Wojcik,Alissa M. D’Gama,James J. Dowling,Sebastian Lunke,Francesco Muntoni,F. Lucy Raymond,David H. Rowitch,Alan H. Beggs,Zornitza Stark,Pankaj B. Agrawal
出处
期刊：Neurology
[Lippincott Williams & Wilkins]
日期：2024-12-19
卷期号：104 (1)
标识
DOI：10.1212/wnl.0000000000210106
摘要
Hypotonia is a relatively common finding among infants in the neonatal intensive care unit (NICU). Consideration of genetic testing is recommended early in the care of infants with unexplained hypotonia. We aimed to assess the diagnostic yield and overall impact of exome and genome sequencing (ES and GS).
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