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

We present two cases of a novel missense variant mutation in the DHX38 gene, which is associated with autosomal recessive retinitis pigmentosa (RP) in two Saudi sisters who presented with poor visual acuity since childhood. On initial examination, the best-corrected visual acuity was 20/300 in both...

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Detalles Bibliográficos
Autores principales: Al-Johani, Saud, Alabdullah, Abdulelah, Nowilaty, Sawsan R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9198537/
https://www.ncbi.nlm.nih.gov/pubmed/35719279
http://dx.doi.org/10.4103/meajo.meajo_40_21

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