Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy

Leber congenital amaurosis (LCA) is a severe disease that leads to complete blindness in children, typically before the first year of life. Due to the clinical and genetic heterogeneity among LCA and other retinal diseases, providing patients with a molecular diagnosis is essential to assigning an a...

Full description

Saved in:
Bibliographic Details
Published in:Genes (Basel)
Main Authors: Porto, Fernanda B. O., Jones, Evan M., Branch, Justin, Soens, Zachry T., Maia, Igor Mendes, Sena, Isadora F. G., Sampaio, Shirley A. M., Simões, Renata T., Chen, Rui
Format: Artigo
Language:Inglês
Published: MDPI 2017
Subjects:
Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5748673/
https://ncbi.nlm.nih.gov/pubmed/29186038
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes8120355
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items