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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| 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 |