| 概要 |
Palmoplantar keratoderma and congenital alopecia (PPKCA) is a rare autosomal dominant disorder characterized by severe skin hyperkeratosis, congenital alopecia and leukonychia totalis. It has been reported that mutations in GJA1 cause this disorder. GJA1 encodes a gap junction protein connexin 43 which is ubiquitously expressed in various organs, including the epidermis and hair follicles.
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| 著者 |
Wang H, Cao X, Lin Z, Lee M, Jia X, Ren Y, Dai L, Guan L, Zhang J, Lin X, Zhang J, Chen Q, Feng C, Zhou EY, Yin J, Xu G, Yang Y |
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