Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank-Ter Haar Syndrome.
作者信息
Türkyilmaz Ayberk, Sager Safiye Gunes, Topcu Bahtisen, Kaplan Aysin Tuba, Günbey Hediye Pinar, Akin Yasemin
机构信息
Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon.
Department of Pediatric Neurology.
出版信息
Clin Dysmorphol. 2022 Jan 1;31(1):45-49. doi: 10.1097/MCD.0000000000000389.
PMID:34538861
Abstract
摘要
Zotero 插件