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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5748673/
https://www.ncbi.nlm.nih.gov/pubmed/29186038
http://dx.doi.org/10.3390/genes8120355

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