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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.

DOI:10.1111/jdv.17171
PMID:33587775
Abstract
摘要

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