Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma.
Guo BR, Zhang X, Chen G, Zhang JG, Sun LD, Du WD, Zhang Q, Cui Y, Zhu J, Tang XF, Xiao R, Liu Y, Li M, Tang HY, Yang X, Cheng H, Li M, Gao M, Li P, Wang JB, Xu FP, Zuo XB, Zheng XD, Zhang XG, Yang L, Liu JJ, Wang J, Yang S, Zhang XJ.
Guo BR, et al. Among authors: zhang q, zhang xg, zhang jg, zhang xj, zhang x.
J Med Genet. 2012 Sep;49(9):563-8. doi: 10.1136/jmedgenet-2012-100868.
J Med Genet. 2012.
PMID: 22972947