J. Rozet

Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations

S. Hanein, J. Papon, E. Escudier, 2010, Journal of Medical Genetics.

Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13

J. Weissenbach, A. Munnich, H. Dollfus, 1996, Human Genetics.

Implication of non-coding PAX6 mutations in aniridia

P. Calvas, N. Chassaing, H. Dollfus, 2018, Human Genetics.

Two Novel Missense Mutations in the Peripherin/RDS Gene in two Unrelated French Patients with Autosomal Dominant Retinitis Pigmentosa

A. Munnich, G. Soubrane, G. Coscas, 1998, European journal of ophthalmology.

Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele

A. Munnich, S. Hanein, J. Dufier, 2003, Journal of medical genetics.

[First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation].

I. Perrault, N. Aboussair, S. Elalaoui, 2010, Journal francais d'ophtalmologie.

Clinical and Genetic Heterogeneity of Leber’s Congenital Amaurosis

J. Weissenbach, A. Munnich, A. Vignal, 1993 .