Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation

PURPOSE: The PITX3 (pituitary homeobox 3) gene encodes for a homeobox bicoid-like transcription factor. When one allele is mutated, it leads to dominant cataract and anterior segment mesenchymal dysgenesis in humans. When both copies are mutated, homozygous mutation contributes to microphtalmia with...

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Detalles Bibliográficos
Autores principales: Chograni, Manèl, Chaabouni, Myriam, Chelly, Imen, Helayem, Mohamed Bechir, Chaabouni-Bouhamed, Habiba
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2848917/
https://www.ncbi.nlm.nih.gov/pubmed/20376326

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2848917/
https://www.ncbi.nlm.nih.gov/pubmed/20376326

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