A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome

PURPOSE: Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder characterized by extraocular anomalies and developmental defects of the anterior segment. PITX2 (paired-like homeodomain transcription factor 2) is considered the major causative gene. In this study, we characterized the molec...

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Detalles Bibliográficos
Autores principales: Li, Dandan, Zhu, Qingguo, Lin, Hui, Zhou, Nan, Qi, Yanhua
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2592999/
https://www.ncbi.nlm.nih.gov/pubmed/19052653

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