Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India

Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India

Abstract Background Leber congenital amaurosis (LCA), primarily characterized by retinal degeneration is the most severe form of inherited retinal dystrophy (IRD) responsible for congenital blindness. The presence of phenotypic heterogeneity makes the diagnosis of LCA challenging, especially in the...

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Main Authors: Sriee Viswarubhiny, Rupa Anjanamurthy, Ayyasamy Vanniarajan, Devarajan Bharanidharan, Vijayalakshmi Perumalsamy, Periasamy Sundaresan
Format: Article
Language:English
Published: BMC 2021-05-01
Series:Eye and Vision
Subjects:
Leber congenital amaurosis
Clinical exome sequencing
Southern India
Molecular diagnosis
Genotype-phenotype correlation
Online Access:https://doi.org/10.1186/s40662-021-00243-5

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