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Heterozygous mutation in OTX2 associated with early-onset retinal dystrophy with atypical maculopathy
PURPOSE: Heterozygous mutations in OTX2 have been associated with a range of ocular and pituitary abnormalities. We report a novel heterozygous deletion in OTX2 underlying early-onset retinal dystrophy with atypical maculopathy. METHODS: Clinical examination included electroretinography and multimod...
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| Publicado no: | Mol Vis |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Molecular Vision
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5693023/ https://ncbi.nlm.nih.gov/pubmed/29204067 |
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