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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2007
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2649307/
https://www.ncbi.nlm.nih.gov/pubmed/17417613

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2649307/
https://www.ncbi.nlm.nih.gov/pubmed/17417613

Ejemplares similares