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Clinical variability in hereditary optic neuropathies: Two novel mutations in two patients with dominant optic atrophy and Wolfram syndrome
Dominant optic atrophy (DOA) and Wolfram syndrome share a great deal of clinical variability, including an association with hearing loss and the presence of optic atrophy at similar ages. The objective of this paper was to discuss the phenotypic variability of these syndromes with respect to the pre...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Elsevier
2015
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4625377/ https://www.ncbi.nlm.nih.gov/pubmed/26586986 http://dx.doi.org/10.1016/j.sjopt.2015.03.003 |