The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus

Author:

Weiner Chen,Hecht Idan,Rotenstreich Ygal,Guttman Sharon,Or Lior,Morad Yair,Shapira Guy,Shomron Noam,Pras Eran

Funder

Claire and Amedee Maratier Institute

Ernest And Nusia Gothelf research funds

Sackler Faculty of Medicine, Tel-Aviv University

Chief Scientist Office of the Ministry of Health, Israel

Consortium for Mapping Retinal Degeneration Disorders in Israel

Foundation Fighting Blindness

Israeli Ministry of Health

Tel Aviv University

Publisher

Elsevier BV

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Reference24 articles.

1. A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1;Al-Araimi;Mol. Vis.,2013

2. Karaite Judaism and Historical Understanding;Astren,2004

3. PAX6 missense mutation in isolated foveal hypoplasia;Azuma;Nat. Genet.,1996

4. Clinical and genetic variability in children with partial albinism;Campbell;Sci. Rep.,2019

5. The clinical features of albinism and their correlation with visual evoked potentials;Dorey;Br. J. Ophthalmol.,2003

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