A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5.

Zhao, Hui-Juan; Zeng, Xin; Lei, Peng-Cheng; Jiang, Xiao-Dan; Li, Xue-Min; Yan, Hui-Min; Guo, Du-Yi; Lu, Xue-Yan; Jiang, Wei

Zhao, Hui-Juan; Zeng, Xin; Lei, Peng-Cheng; Jiang, Xiao-Dan; Li, Xue-Min; Yan, Hui-Min; Guo, Du-Yi; Lu, Xue-Yan; Jiang, Wei.

Afiliação

Zhao HJ; Department of Dermatology, Peking University Third Hospital, Beijing, China.
Zeng X; Key Laboratory of Structural Biology, School of Chemical Biology & Biotechnology, Peking University Shenzhen Graduate School, Shenzhen, China.
Lei PC; Department of Dermatology, Peking University Third Hospital, Beijing, China.
Jiang XD; Department of Ophthalmology, Peking University Third Hospital, Beijing, China.
Li XM; Department of Ophthalmology, Peking University Third Hospital, Beijing, China.
Yan HM; Department of Dermatology, Peking University Third Hospital, Beijing, China.
Guo DY; Department of Dermatology, Peking University Third Hospital, Beijing, China.
Lu XY; Department of Dermatology, Peking University Third Hospital, Beijing, China.
Jiang W; Department of Dermatology, Peking University Third Hospital, Beijing, China.

Eur J Dermatol ; 2018 Feb 01.

Article em En | MEDLINE | ID: mdl-29400301

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Eur J Dermatol Assunto da revista: DERMATOLOGIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: China

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