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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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2006
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684248/
https://ncbi.nlm.nih.gov/pubmed/17134502
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-7-82
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