Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy

To report novel mutations in two Saudi children with clinical features of Leber congenital amaurosis (LCA) and Alström syndrome. Case reports. Case 1 was a child with phenotypic features of LCA including oculodigital sign, bilateral enophthalmos, nystagmus, pale disc, and retinal changes. Direct seq...

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Detalles Bibliográficos
Autores principales: Safieh, Leen Abu, Al-Otaibi, Humoud M., Lewis, Richard Alan, Kozak, Igor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4759893/
https://www.ncbi.nlm.nih.gov/pubmed/26957854
http://dx.doi.org/10.4103/0974-9233.171779

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4759893/
https://www.ncbi.nlm.nih.gov/pubmed/26957854
http://dx.doi.org/10.4103/0974-9233.171779

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