A case of PAPASH syndrome in a young man carrying a novel heterozygote missense variant in PSTPIP1.
作者信息
Kotzerke M, Mitri F, Marbach F, Enk A, Haenssle H
机构信息
Department of Dermatology, University Hospital Heidelberg, Heidelberg, Germany.
Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
出版信息
J Eur Acad Dermatol Venereol. 2021 Jul;35(7):e439-e440. doi: 10.1111/jdv.17171. Epub 2021 Mar 15.
PMID:33587775
Abstract
摘要
Zotero 插件