Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling.
作者信息
Pöhler Elizabeth, Zamiri Mozheh, Harkins Catriona P, Salas-Alanis Julio C, Perkins William, Smith Frances J D, Irwin McLean W H, Brown Sara J
机构信息
Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK.
Department of Dermatology, University Hospital Crosshouse, Kilmarnock, UK.
出版信息
J Invest Dermatol. 2013 Dec;133(12):2805-2808. doi: 10.1038/jid.2013.243. Epub 2013 Jun 6.
Abstract
摘要
Zotero 插件