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Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene
BACKGROUND: Congenital cataract is a leading cause of treatable childhood blindness and both clinically and genetically heterogeneous. Among the already characterized phenotypes, coralliform cataract is a rare special form of congenital cataracts. Although previous studies had shown that mutations i...
Autores principales: | Wang, Kai-Jie, Wang, Jue-Xue, Wang, Jin-Da, Li, Meng, Zhang, Jing-Shang, Mao, Ying-Yan, Wan, Xiu-Hua |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10362579/ https://www.ncbi.nlm.nih.gov/pubmed/37480084 http://dx.doi.org/10.1186/s13023-023-02816-0 |
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