Heterozygous GJA1 variants with ocular phenotype: Missense in domain but truncation out of domain

PURPOSE: Oculodentodigital dysplasia (ODDD) is a group disorder caused by GJA1 variants, of which glaucoma leading to blindness is a frequent complication of the ocular phenotype. In this study, the correlation of the GJA1 genotype with the ocular phenotype was analyzed systematically. METHODS: GJA1...

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Detalles Bibliográficos
Autores principales: Li, Xueqing, Xiao, Xueshan, Li, Shiqiang, Ouyang, Jiamin, Sun, Wenmin, Liu, Xing, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8131177/
https://www.ncbi.nlm.nih.gov/pubmed/34035645

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8131177/
https://www.ncbi.nlm.nih.gov/pubmed/34035645

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