Article
Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia.
American journal of medical genetics. Part A - 1 Feb 2020
Wei Heming, Wee Lynette W Y, Born Bori, Seang Sokheng, Koh Mark J A, Yee Ruixiang, Lin Grace, Rafi'ee Khadijah, Mey Sithach, Tan Ene-Choo
Abstract excerpt
Haim-Munk syndrome (HMS) and Papillon-Lefevre syndrome (PLS) are phenotypic variants of palmoplantar keratoderma (PPK) with progressive early-onset periodontitis and dental caries. HMS and PLS have been associated with homozygous or compound heterozygous mutations in the lysosomal protease gene Cathepsin C (CTSC). There have been only a few documented cases of CTSC mutations in patients from South-East Asia. We...
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