Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract

Pediatric cataract is clinically and genetically heterogeneous and is the most common cause of childhood blindness worldwide. In this study, we aimed to identify disease-causing variants in three large British families and one isolated case with autosomal dominant congenital cataract, using whole ex...

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Detalles Bibliográficos
Autores principales: Berry, Vanita, Ionides, Alex, Pontikos, Nikolas, Moghul, Ismail, Moore, Anthony T., Quinlan, Roy A., Michaelides, Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288463/
https://www.ncbi.nlm.nih.gov/pubmed/32384692
http://dx.doi.org/10.3390/genes11050512

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288463/
https://www.ncbi.nlm.nih.gov/pubmed/32384692
http://dx.doi.org/10.3390/genes11050512

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