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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...
Autores principales: | Gong, Li, Guo, Shuping, Wang, Detong, Wang, Ting, Ren, Xiaoli, Yuan, Yuting, Cui, Hongzhou |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove
2021
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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 |
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