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A novel KRT16 frameshift variant causing pachyonychia congenita by re-initiation of translation.
Wang, Sai; Bai, Qianqian; Lee, Mingyang; Lin, Zhimiao; Cai, Liangqi; Wang, Huijun.
Afiliação
  • Wang S; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases and NMPA Key Laboratory for Quality Control and Evaluation of Cosmetics, Beijing, China.
  • Bai Q; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases and NMPA Key Laboratory for Quality Control and Evaluation of Cosmetics, Beijing, China.
  • Lee M; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases and NMPA Key Laboratory for Quality Control and Evaluation of Cosmetics, Beijing, China.
  • Lin Z; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases and NMPA Key Laboratory for Quality Control and Evaluation of Cosmetics, Beijing, China.
  • Cai L; Dermatology Hospital, Southern Medical University, Guangzhou, China.
  • Wang H; Department of Dermatology, The First Affiliated Hospital of Xiamen University, Xiamen, China.
J Eur Acad Dermatol Venereol ; 37(2): e166-e168, 2023 02.
Article em En | MEDLINE | ID: mdl-36149327

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Paquioníquia Congênita Limite: Humans Idioma: En Revista: J Eur Acad Dermatol Venereol Assunto da revista: DERMATOLOGIA / DOENCAS SEXUALMENTE TRANSMISSIVEIS Ano de publicação: 2023 Tipo de documento: Article País de afiliação: China

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Paquioníquia Congênita Limite: Humans Idioma: En Revista: J Eur Acad Dermatol Venereol Assunto da revista: DERMATOLOGIA / DOENCAS SEXUALMENTE TRANSMISSIVEIS Ano de publicação: 2023 Tipo de documento: Article País de afiliação: China