Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees

PURPOSE: The aim of this study is to identify disease-causing variants in five consanguineous Jordanian families with a history of autosomal recessive retinitis pigmentosa (RP), and to investigate the clinical variability across the affected individuals. METHODS: Exome sequencing (ES) and ophthalmic...

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Detalles Bibliográficos
Autores principales: Al-Bdour, Muawyah, Pauleck, Svenja, Dardas, Zain, Barham, Raghda, Ali, Dema, Amr, Sami, Mustafa, Lina, Abu-Ameerh, Mohammed, Maswadi, Ranad, Azab, Belal, Awidi, Abdalla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7305691/
https://www.ncbi.nlm.nih.gov/pubmed/32587456

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7305691/
https://www.ncbi.nlm.nih.gov/pubmed/32587456

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