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A KRT6A and a Novel KRT16 Gene Mutations in Chinese Patients with Pachyonychia Congenita

BACKGROUND: Pachyonychia congenita (PC) is a rare, autosomal dominant genodermatosis characterized by palmoplantar keratoderma, nail dystrophy, cystic lesions, follicular hyperkeratosis, mucosal leukokeratoses, hyperhidrosis, hoarseness, and, rarely, natal teeth. Five keratin genes, KRT6A, KRT6B, KR...

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Detalles Bibliográficos
Autores principales: Gong, Li, Guo, Shuping, Wang, Detong, Wang, Ting, Ren, Xiaoli, Yuan, Yuting, Cui, Hongzhou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7982554/
https://www.ncbi.nlm.nih.gov/pubmed/33762842
http://dx.doi.org/10.2147/IJGM.S280160