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

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

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Main Authors: Vanita Vanita (Author), Shiwali Goyal (Author), Shailja Tibrewal (Author), Suma Ganesh (Author)
Format: Book
Published: Frontiers Media S.A., 2022-12-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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