Ocular manifestations of branchio-oculo-facial syndrome: Report of a novel mutation and review of the literature

PURPOSE: To report unusual ocular manifestations of branchio-oculo-facial syndrome (BOFS) caused by a novel mutation in activating enhancer binding protein 2 alpha (TFAP2A). METHODS: Full ophthalmological evaluation and direct sequencing of TFAP2A. RESULTS: A 10-year-old girl with unusual ocular man...

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Detalles Bibliográficos
Autores principales: Al-Dosari, M.S., Almazyad, M., Al-Ebdi, L., Mohamed, J.Y., Al-Dahmash, Saad, Al-Dhibi, Hassan, Al-Kahtani, Eman, Al-Turkmani, Shahira, Alkuraya, Hisham, Hall, B.D., Alkuraya, F.S.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2866573/
https://www.ncbi.nlm.nih.gov/pubmed/20461149

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