AQP5 pathogenic variants induce palmoplantar keratoderma Bothnia type in two Chinese families

Wang, YM; Wang, JB; Li, Y; Pan, CL; Zhou, WG; Cao, QY; Yao, ZR; Han, JW; Li, M

Li, M (通讯作者)，Shanghai Jiao Tong Univ, Xinhua Hosp, Dept Dermatol, Sch Med, 1665 Kongjiang Rd, Shanghai 200092, Peoples R China.;Han, JW (通讯作者)，Inner Mongolia Med Univ, Dept Dermatol, Affiliated Hosp, 1 Tongdao North St, Hohhot 010050, Peoples R China.

JOURNAL OF DERMATOLOGY, 2022; 49 (4): 463

Abstract

Palmoplantar keratoderma Bothnia type (PPKB) is caused by AQP5 pathogenic variants. The mechanisms of this disease and the genotype-phenotype correlat......

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