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

PURPOSE: 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' anoma...

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Autori principali: Dansault, Anouk, David, Gabriel, Schwartz, Claire, 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Molecular Vision 2007
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2649307/
https://ncbi.nlm.nih.gov/pubmed/17417613
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