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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...
Autores principales: | Cheng, Zhixing, Wang, Xun, Wang, Qiwei, Zhang, Xulin, Wang, Dongni, Huang, Weiming, Dongye, Meimei, Feng, Xiaocheng, Zheng, Danying, Lin, Haotian |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
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 |
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