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Molecular diagnosis of autosomal dominant congenital cataract in two families from North India reveals a novel and a known variant in GJA8 and GJA3

AIMS: The study aims to detect the underlying genetic defect in two autosomal dominant congenital cataract (ADCC) families. METHODS: A detailed family history was collected, pedigrees were drawn, and slit-lamp examination and lens photography were performed. Mutation screening was carried out in the...

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Detalles Bibliográficos
Autores principales: Vanita, Vanita, Goyal, Shiwali, Tibrewal, Shailja, Ganesh, Suma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9755747/
https://www.ncbi.nlm.nih.gov/pubmed/36533234
http://dx.doi.org/10.3389/fped.2022.1003909