Vohwinkel syndrome with de novo heterozygous mutation in the GJB2 gene - c.175G>A (p. Gly59Ser).
作者信息
Duran-Lemarie María Caridad, Cano-Aguilar Luis Enrique, Benitez-Alonso Edmar Obed, Cruz-Sotomayor Dalia, Villela-Segura Uriel, Proy-Trujillo Hector
机构信息
Department of Dermatology, General Hospital "Dr Manuel Gea González", Mexico City, Mexico.
Department of Neurogenetics, National Institute of Neurology "Manuel Velasco Suárez", Mexico City, Mexico.
出版信息
An Bras Dermatol. 2025 Jan-Feb;100(1):190-193. doi: 10.1016/j.abd.2023.01.010. Epub 2024 Nov 26.
Abstract
摘要
Zotero 插件