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Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes

PURPOSE: Optic nerve aplasia (ONA, OMIM 165550) is a very rare unilateral or bilateral condition that leads to blindness in the affected eye, and is usually associated with other ocular abnormalities. Although bilateral ONA often occurs in association with severe congenital anomalies of the brain, n...

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Detalles Bibliográficos
Autores principales: Meire, Françoise, Delpierre, Isabelle, Brachet, Cecile, Roulez, Françoise, Van Nechel, Christian, Depasse, Fanny, Christophe, Catherine, Menten, Björn, De Baere, Elfride
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3156792/
https://www.ncbi.nlm.nih.gov/pubmed/21850183