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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Detalles Bibliográficos
Autores principales: Abdalla-Elsayed, Maram EA, Schatz, Patrik, Neuhaus, Christine, Khan, Arif O.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5693023/
https://www.ncbi.nlm.nih.gov/pubmed/29204067

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