Anterior Umbilication of Lens in a Family with Congenital Cataracts Associated with a Missense Mutation of <i>MIP</i> Gene.

Cheng, Zhixing; Wang, Xun; Wang, Qiwei; Zhang, Xulin; Wang, Dongni; Huang, Weiming; Dongye, Meimei; Feng, Xiaocheng; Zheng, Danying; Lin, Haotian

Anterior Umbilication of Lens in a Family with Congenital Cataracts Associated with a Missense Mutation of MIP Gene.

Cheng, Zhixing; Wang, Xun; Wang, Qiwei; Zhang, Xulin; Wang, Dongni; Huang, Weiming; Dongye, Meimei; Feng, Xiaocheng; Zheng, Danying; Lin, Haotian.

Afiliação

Cheng Z; Guangdong Eye Institute, Department of Ophthalmology, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China.
Wang X; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China.
Wang Q; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China.
Zhang X; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China.
Wang D; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China.
Huang W; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China.
Dongye M; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China.
Feng X; People's Hospital of Yingde City, Qingyuan 513000, China.
Zheng D; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China.
Lin H; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China.

Genes (Basel) ; 13(11)2022 10 31.

Article em En | MEDLINE | ID: mdl-36360224

Assuntos

Aquaporinas; Catarata; Humanos; Aquaporinas/genética; Povo Asiático; Catarata/genética; Catarata/congênito; Proteínas do Olho/genética; Mutação de Sentido Incorreto

Palavras-chave

anterior umbilication of the lens; congenital cataracts (CCs); elongated axial length; major intrinsic protein (MIP); whole-exome sequencing (WES)

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Aquaporinas Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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