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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...

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Detalles Bibliográficos
Autores principales: Wang, Kai-Jie, Wang, Jue-Xue, Wang, Jin-Da, Li, Meng, Zhang, Jing-Shang, Mao, Ying-Yan, Wan, Xiu-Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
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