Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome.
作者信息
Karger Lisa, Khan Wahab A, Calabio Rafaela, Singh Ram, Xiang Bixia, Babu Arvind, Cohen Ninette, Yang Amy C, Scott Stuart A
机构信息
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Division of Neonatology, Mount Sinai West, New York, New York.
出版信息
Am J Med Genet A. 2017 May;173(5):1436-1439. doi: 10.1002/ajmg.a.38154. Epub 2017 Mar 20.
Abstract
摘要
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