Exome sequencing identifies a KRT9 pathogenic variant in a Chinese pedigree with epidermolytic palmoplantar keratoderma

ConclusionThis report describes aKRT9 c.488G  >  A (p.Arg163Gln) variant causing a diffuse phenotype of Chinese EPPK. The current results broaden the spectrum ofKRT9 pathogenic variants responsible for EPPK and have important implications for molecular diagnosis, treatment, and genetic counseling for this family.

Source: Molecular Genetics & Genomic Medicine - May 8, 2019 Category: Genetics & Stem Cells Authors: Changxing Li, Pingjiao Chen, Silong Sun, Kang Zeng, Jingyao Liang, Qi Wang, Sanquan Zhang, Meinian Xu, Zhijia Li, Xibao Zhang Tags: CLINICAL REPORT Source Type: research