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Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.

par Dansault, Anouk;David, Gabriel;Schwartz, C.;Jaliffa, Carolina;Vieira, Véronique;de la Houssaye, Guillaume;Bigot, Karine;Catin, Françise;Tattu, Laurent;Chopin, Catherine;Halimi, Philippe;Roche, Olivier;Van Regemorter, Nicole ;Munier, Francis;Schorderet, Daniel;Dufier, Jean-Louis;Marsac, Cécile;Ricquier, Daniel;Menasche, Maurice;Penfornis, Alfred;Abitbol, Marc
Référence Molecular vision, 13, page (511-523)
Publication Publié, 2007

Article révisé par les pairs

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Résumé :

The PAX6 gene was first described as a candidate for human aniridia. However, PAX6 expression is not restricted to the eye and it appears to be crucial for brain development. We studied PAX6 mutations in a large spectrum of patients who presented with aniridia phenotypes, Peters' anomaly, and anterior segment malformations associated or not with neurological anomalies.