Compound heterozygous mutations in in a deaf child with absent cochlear nerves.
作者信息
Kari Elina, Schrauwen Isabelle, Llaci Lorida, Fisher Laurel M, Go John L, Naymik Marcus, Knowles James A, Huentelman Matthew J, Friedman Rick A
机构信息
Tina and Rick Caruso Department of Otolaryngology-Head and Neck Surgery (E.K., L.M.F., J.L.G., J.A.K., R.A.F.), Keck University of Southern California School of Medicine, Los Angeles; and TGen (I.S., L.L., M.N., M.J.H.), Translational Genomics Research Institute, Phoenix, AZ.
出版信息
Neurol Genet. 2017 May 11;3(3):e153. doi: 10.1212/NXG.0000000000000153. eCollection 2017 Jun.
Abstract
摘要
Zotero 插件