A Novel Missense Variant C.2571 (P.Ala857=) of the DHX38 Gene in a Saudi Family Causes an Autosomal Recessive Retinitis Pigmentosa

por Al-Johani, Saud, Alabdullah, Abdulelah, Nowilaty, Sawsan R.
Publicado 2022

Intermediate Uveitis in Retinitis Pigmentosa Associated with a Novel Homozygous Splice Site Mutation in PRPF8

por Badawi, Abdulrahman H., Magliyah, Moustafa S., Schatz, Patrik, Al-Shehri, Abdulaziz, Alabdullah, Abdulelah A.
Publicado 2022