Identifying mutations in Tunisian families with retinal dystrophy

Retinal dystrophies (RD) are a rare genetic disorder with high genetic heterogeneity. This study aimed at identifying disease-causing variants in fifteen consanguineous Tunisian families. Full ophthalmic examination was performed. Index patients were subjected to IROme analysis or whole exome sequen...

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Detalles Bibliográficos
Autores principales: Habibi, Imen, Chebil, Ahmed, Falfoul, Yosra, Allaman-Pillet, Nathalie, Kort, Fedra, Schorderet, Daniel F., El Matri, Leila
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5118704/
https://www.ncbi.nlm.nih.gov/pubmed/27874104
http://dx.doi.org/10.1038/srep37455

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5118704/
https://www.ncbi.nlm.nih.gov/pubmed/27874104
http://dx.doi.org/10.1038/srep37455

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