Cargando...

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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Main Authors: Li, Dandan, Zhu, Qingguo, Lin, Hui, Zhou, Nan, Qi, Yanhua
Formato: Artigo
Idioma:Inglês
Publicado: Molecular Vision 2008
Assuntos:
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2592999/
https://ncbi.nlm.nih.gov/pubmed/19052653
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!