The autosomal dominant disorders iris hypolasia (IH), iridogoniodysgenesis syndrome
(IGDS) and Axenfeld–Rieger syndrome (ARS) are characterized by maldevelopment of the …

purpose. Mutations of the homeodomain protein PITX2 produce Axenfeld-Rieger (AR)
malformations of the anterior chamber, an autosomal dominant disorder accompanied by a …

The specific role of PITX2 in the pathogenesis of anterior segment dysgenesis has yet to be
clearly defined. We provide here new insight into PITX2 pathogenesis through mutational …

Purpose Axenfeld Rieger syndrome (ARS) is an autosomal dominant inherited disorder
affecting development of the ocular anterior chamber, abdomen, teeth and facial structures …

purpose. To assess the effects of previously uncharacterized PITX2 missense mutations
found in patients with Axenfeld-Rieger syndrome and to determine the functional roles of the …

Anterior segment dysgenesis (ASD) encompasses a broad spectrum of developmental
conditions affecting anterior ocular structures and associated with an increased risk for …

Mutations in FOXC1 and PITX2 constitute the most common causes of ocular anterior
segment dysgenesis (ASD), and confer a high risk for secondary glaucoma. The genetic …

Purpose.: Mutations in PITX2 are associated with Axenfeld-Rieger syndrome (ARS), which
involves ocular, dental, and umbilical abnormalities. Identification of cis-regulatory elements …

Background The homeodomain-containing transcription factor PITX3 was shown to be
essential for normal eye development in vertebrates. Human patients with point mutations in …

The PITX2 (paired-like homeodomain 2) gene encodes a bicoid-like homeodomain
transcription factor linked with several human disorders. The main associated congenital …