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Article

Application of WES Towards Molecular Investigation of Congenital Cataracts: Identification of Novel Alleles and Genes in a Hospital-Based Cohort of South India.

International journal of molecular sciences - 16 Dec 2020

Kandaswamy Dinesh Kumar, Prakash Makarla Venkata Sathya, Graw Jochen, Koller Samuel, Magyar István, Tiwari Amit, Berger Wolfgang, Santhiya Sathiyaveedu Thyagarajan

Abstract excerpt

Congenital cataracts are the prime cause for irreversible blindness in children. The global incidence of congenital cataract is 2.2-13.6 per 10,000 births, with the highest prevalence in Asia. Nearly half of the congenital cataracts are of familial nature, with a predominant autosomal dominant pattern of inheritance. Over 38 of the 45 mapped loci for isolated congenital or infantile cataracts have been associated...

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PMID: 33339270
DOI: 10.3390/ijms21249569
PMCID: PMC7765966

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