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

Congenital cataracts (CCs) have significant genotypic and phenotypic heterogeneity. The major intrinsic protein (MIP) gene, one of the causative genes of CCs, plays a vital role in maintaining the homeostasis and transparency of the lens. In this study, we identified a unique phenotype of anterior u...

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Detalles Bibliográficos
Autores principales: Cheng, Zhixing, Wang, Xun, Wang, Qiwei, Zhang, Xulin, Wang, Dongni, Huang, Weiming, Dongye, Meimei, Feng, Xiaocheng, Zheng, Danying, Lin, Haotian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690445/
https://www.ncbi.nlm.nih.gov/pubmed/36360224
http://dx.doi.org/10.3390/genes13111987

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690445/
https://www.ncbi.nlm.nih.gov/pubmed/36360224
http://dx.doi.org/10.3390/genes13111987

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