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

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 patte...

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Detalles Bibliográficos
Autores principales: Kandaswamy, Dinesh Kumar, Prakash, Makarla Venkata Sathya, Graw, Jochen, Koller, Samuel, Magyar, István, Tiwari, Amit, Berger, Wolfgang, Santhiya, Sathiyaveedu Thyagarajan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7765966/
https://www.ncbi.nlm.nih.gov/pubmed/33339270
http://dx.doi.org/10.3390/ijms21249569

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