Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects.

Meng, Fanlei; Li, Xin; Zhang, Jinlu; Gao, Zhiyang; Yang, Xue; Liu, Ziqi; Liu, Yajie; Guo, Tong; Wang, Likun; Yang, Liping; Wang, Zhaohui

Meng, Fanlei; Li, Xin; Zhang, Jinlu; Gao, Zhiyang; Yang, Xue; Liu, Ziqi; Liu, Yajie; Guo, Tong; Wang, Likun; Yang, Liping; Wang, Zhaohui.

Afiliação

Meng F; State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China.
Li X; University of the Chinese Academy of Sciences, Beijing, China.
Zhang J; State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China.
Gao Z; School of Basic Medical Sciences, Peking University, Beijing, China.
Yang X; State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China.
Liu Z; State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China.
Liu Y; University of the Chinese Academy of Sciences, Beijing, China.
Guo T; State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China.
Wang L; University of the Chinese Academy of Sciences, Beijing, China.
Yang L; State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China.
Wang Z; University of the Chinese Academy of Sciences, Beijing, China.

J Med Genet ; 60(7): 655-661, 2023 07.

Article em En | MEDLINE | ID: mdl-36446583

Assuntos

Anormalidades do Olho; Microftalmia; Humanos; Microftalmia/genética; Aminoácidos/genética; Testes Genéticos; Anormalidades do Olho/genética; Mutação; Linhagem; Proteínas de Homeodomínio/genética

Palavras-chave

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Association Studies; Genetic Counselling; Sequence Analysis, Protein

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades do Olho / Microftalmia Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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