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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2022
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| Materias: | |
| 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 |