A case of PAPASH syndrome in a young man carrying a novel heterozygote missense variant in PSTPIP1

J Eur Acad Dermatol Venereol. 2021 Jul;35(7):e439-e440. doi: 10.1111/jdv.17171. Epub 2021 Mar 15.

Authors

M Kotzerke¹, F Mitri¹, F Marbach², A Enk¹, H Haenssle¹

Affiliations

¹ Department of Dermatology, University Hospital Heidelberg, Heidelberg, Germany.
² Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

PMID: 33587775
DOI: 10.1111/jdv.17171

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adaptor Proteins, Signal Transducing / genetics
Cytoskeletal Proteins / genetics
Heterozygote
Humans
Male
Mutation, Missense*
Pedigree
Pyoderma Gangrenosum*
Syndrome

Substances

Adaptor Proteins, Signal Transducing
Cytoskeletal Proteins
PSTPIP1 protein, human