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Article

A novel CRYGC E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred.

Ophthalmic genetics - 1 Dec 2020

Kandaswamy Dinesh Kumar, Vasantha K, Graw Jochen, Santhiya Sathiyaveedu Thyagarajan

Abstract excerpt

PURPOSE: To identify the mutation causing an autosomal dominant congenital nuclear cataract in a south Indian family by whole exome sequencing and to characterize further phenotypically the same in a zebra fish model. METHODS: A six-generation family (DKEC1) with several affected members registered at the Regional Institute of Ophthalmology (RIO), Chennai was documented to have congenital nuclear cataract....

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PMID: 32811259
DOI: 10.1080/13816810.2020.1807027

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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