Article

<i>notum1</i> , acting downstream of pitx2, is essential for proper eye and craniofacial development

2019-07-02

Abstract excerpt

<h4>ABSTRACT</h4> Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant developmental disorder characterized by ocular anterior chamber anomalies with an increased risk of glaucoma and systemic defects. Mutations in the transcription factor PITX2 were the first identified genetic cause of ARS. Despite the developmental importance of PITX2 and its role in ARS, the pathways downstream of PITX2 have yet to b...

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Literature Corpus work: 3dd36c20-e2d7-5a49-a330-0dbe15875b44
DOI: 10.1101/687798

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