Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations

FAM161A mutations are the most common cause of autosomal recessive retinitis pigmentosa in the Israeli-Jewish population. We aimed to characterize the spectrum of FAM161A-associated phenotypes and identify characteristic clinical features. We identified 114 bi-allelic FAM161A patients and obtained c...

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Detalles Bibliográficos
Autores principales: Beryozkin, Avigail, Khateb, Samer, Idrobo-Robalino, Carlos Alberto, Khan, Muhammad Imran, Cremers, Frans P. M., Obolensky, Alexey, Hanany, Mor, Mezer, Eedy, Chowers, Itay, Newman, Hadas, Ben-Yosef, Tamar, Sharon, Dror, Banin, Eyal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7495424/
https://www.ncbi.nlm.nih.gov/pubmed/32938956
http://dx.doi.org/10.1038/s41598-020-72028-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7495424/
https://www.ncbi.nlm.nih.gov/pubmed/32938956
http://dx.doi.org/10.1038/s41598-020-72028-0

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