Article
One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes.
Clinical and experimental dermatology - 1 Mar 2016
Sulák A, Tóth L, Farkas K, Tripolszki K, Fábos B, Kemény L, Vályi P, Nagy K, Nagy N, Széll M
Abstract excerpt
BACKGROUND: Papillon-Lefévre syndrome (PLS; OMIM 245000) and Haim-Munk syndromes (HMS; OMIM 245010) are phenotypic variants of the same rare disease caused by mutations of the cathepsin C (CTSC) gene, and they exhibit autosomal recessive inheritance. AIMS: To identify diseases caused by mutations of the CTSC gene in two Hungarian patients and to perform haplotype analysis to elucidate any familial relationship...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.