Novel nonsense CAST mutation in two siblings with PLACK syndrome

Int J Dermatol. 2023 Oct;62(10):1295-1299. doi: 10.1111/ijd.16760. Epub 2023 Jun 30.

Authors

Ceren D Durmaz^{1

2}, Aysel Tekmenuray-Unal²

Affiliations

¹ Department of Medical Genetics, School of Medicine, Hacettepe University, Ankara, Turkey.
² Department of Medical Genetics, Gazi Yaşargil Training and Research Hospital, University of Health Sciences, Diyarbakır, Turkey.

PMID: 37387535
DOI: 10.1111/ijd.16760

No abstract available

Publication types

Case Reports

MeSH terms

Humans
Mutation
Pedigree
Siblings*
Syndrome

Substances

CAST protein, human