Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 human gene

Congenital cataract is one of the most genetically heterogeneous ocular conditions with different genes involved in its etiology. Here, we describe the analysis of a new candidate gene of a congenital bilateral cataract associated with polymalformative syndrome, moderate global developmental delay,...

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Detalles Bibliográficos
Autores principales: Chograni, M., Alahdal, H. M., Rejili, M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10182639/
https://www.ncbi.nlm.nih.gov/pubmed/37179318
http://dx.doi.org/10.1186/s40246-023-00492-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10182639/
https://www.ncbi.nlm.nih.gov/pubmed/37179318
http://dx.doi.org/10.1186/s40246-023-00492-6

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