Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report

BACKGROUND: Axenfeld-Rieger syndrome (ARS) is characterized by bilateral congenital abnormalities of the anterior segment of the eye associated with abnormalities of the teeth, midface, and umbilicus. Most cases of ARS are caused by mutations in the genes encoding PITX2 or FOXC1. Here we describe a...

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Detalles Bibliográficos
Autores principales: de la Houssaye, Guillaume, Bieche, Ivan, Roche, Olivier, Vieira, Véronique, Laurendeau, Ingrid, Arbogast, Laurence, Zeghidi, Hatem, Rapp, Philippe, Halimi, Philippe, Vidaud, Michel, Dufier, Jean-Louis, Menasche, Maurice, Abitbol, Marc
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1684248/
https://www.ncbi.nlm.nih.gov/pubmed/17134502
http://dx.doi.org/10.1186/1471-2350-7-82

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