Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy

Inherited optic neuropathies are a heterogeneous group of disorders characterized by mild to severe visual loss, colour vision deficit, central or paracentral visual field defects and optic disc pallor. Optic atrophies can be classified into isolated or non-syndromic and syndromic forms. While multi...

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Bibliografiske detaljer
Udgivet i:Genet Res (Camb)
Main Authors: COHEN, LIOR, TZUR, SHAY, GOLDENBERG-COHEN, NITZA, BORMANS, CONCETTA, BEHAR, DORON M., REINSTEIN, EYAL
Format: Artigo
Sprog:Inglês
Udgivet: Cambridge University Press 2016
Fag:
Research Papers
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6865152/
https://ncbi.nlm.nih.gov/pubmed/27265430
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1017/S0016672316000070
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