Genetic spectrum of retinal dystrophies in Tunisia

Abstract We report the molecular basis of the largest Tunisian cohort with inherited retinal dystrophies (IRD) reported to date, identify disease-causing pathogenic variants and describe genotype–phenotype correlations. A subset of 26 families from a cohort of 73 families with clinical diagnosis of...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Imen Habibi, Yosra Falfoul, Ahmed Turki, Asma Hassairi, Khaled El Matri, Ahmed Chebil, Daniel F. Schorderet, Leila El Matri
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2020
Materias:
R
Q
Acceso en línea:https://doaj.org/article/265ffa3b52364d2eb4761790714b5dc7
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!