Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans

We report here that the compound heterozygosity or homozygosity of GPNMB truncating alleles is the cause of autosomal-recessive ACD.

Source: The American Journal of Human Genetics - January 11, 2018 Category: Genetics & Stem Cells Authors: Chi-Fan Yang, Shuan-Pei Lin, Chien-Ping Chiang, Yu-Hung Wu, Weng Siong H ’ng, Chun-Ping Chang, Yuan-Tsong Chen, Jer-Yuarn Wu Tags: Article Source Type: research