Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndrome.
作者信息
Vornweg J, Gläser S, Ahmad-Anwar M, Zimmer A D, Kuhn M, Hörer S, Korenke G C, Grothaus J, Ott H, Fischer J
机构信息
Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Genetikum, Neu-Ulm, Germany.
出版信息
Br J Dermatol. 2021 Jun;184(6):1190-1192. doi: 10.1111/bjd.19815. Epub 2021 Mar 3.
PMID:33452671
Abstract
摘要
Zotero 插件