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

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 absence...

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Detalles Bibliográficos
Autores principales: Viswarubhiny, Sriee, Anjanamurthy, Rupa, Vanniarajan, Ayyasamy, Bharanidharan, Devarajan, Perumalsamy, Vijayalakshmi, Sundaresan, Periasamy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8101128/
https://www.ncbi.nlm.nih.gov/pubmed/33957996
http://dx.doi.org/10.1186/s40662-021-00243-5

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