Retinal dystrophy in Bardet–Biedl syndrome and related syndromic ciliopathies

Author:

Mockel A.,Perdomo Y.,Stutzmann F.,Letsch J.,Marion V.,Dollfus H.

Publisher

Elsevier BV

Subject

Sensory Systems,Ophthalmology

Reference138 articles.

1. Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet–Biedl syndrome;Abd-El-Barr;Vis. Res.,2007

2. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence–Moon–Bardet–Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree;Alstrom;Acta Psychiatr. Neurol. Scand. Suppl.,1959

3. Cilia in cell-cultured fibroblasts. II. Incidence in mitotic and post-mitotic BHK 21-C13 fibroblasts;Archer;J. Anat.,1971

4. Acetylated alpha-tubulin in the connecting cilium of developing rat photoreceptors;Arikawa;Invest. Ophthalmol. Vis. Sci.,1993

5. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome;Arts;Nat. Genet.,2007

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