Detection and characterization of low-level mosaicism among clinically unaffected parents of 'sporadic' epidermolysis bullosa simplex cases

Chen, FY; Deng, D; Pan, CL; Yao, ZR; Gu, Y; Li, M

Li, M (通讯作者)，Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Dept Dermatol, Shanghai, Peoples R China.;Li, M (通讯作者)，Shanghai Jiao Tong Univ, Sch Med, Inst Dermatol, Shanghai, Peoples R China.

BRITISH JOURNAL OF DERMATOLOGY, 2022; 187 (3): 441

Abstract

In this study, two (18.2%) clinically unaffected parents from 11 trios were identified with mosaic KRT14 variants.To our knowledge, this is the first ......

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