GPSM2 mutations in Chudley-McCullough syndrome.
作者信息
Diaz-Horta Oscar, Sirmaci Asli, Doherty Dan, Nance Walter, Arnos Kathleen, Pandya Arti, Tekin Mustafa
机构信息
Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida 33136, USA.
出版信息
Am J Med Genet A. 2012 Nov;158A(11):2972-3. doi: 10.1002/ajmg.a.35636. Epub 2012 Sep 14.
Abstract
摘要
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A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss.
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