Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V

Keratosis follicularis spinulosa decalvans (KFSD) is a rare cornification disorder with an X-linked recessive inheritance in most cases. Pathogenic variants causing X-linked KFSD have been described in MBTPS2, the gene for a membrane-bound zinc metalloprotease that is involved in the cleavage of ste...

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Bibliographic Details

Published in:	Frontiers in Genetics
Main Authors:	Katja M. Eckl, Robert Gruber, Louise Brennan, Andrew Marriott, Roswitha Plank, Verena Moosbrugger-Martinz, Stefan Blunder, Anna Schossig, Janine Altmüller, Holger Thiele, Peter Nürnberg, Johannes Zschocke, Hans Christian Hennies, Matthias Schmuth
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2021-07-01
Subjects:	keratosis follicularis spinulosa decalvans congenital disorder of cornification cicatricial alopecia cystatin transglutaminase epidermal differentiation
Online Access:	https://www.frontiersin.org/articles/10.3389/fgene.2021.689940/full