A model for the molecular underpinnings of tooth defects in Axenfeld–Rieger syndrome

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A model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndrome.

Patients with Axenfeld-Rieger Syndrome (ARS) present various dental abnormalities, including hypodontia, and enamel hypoplasia. ARS is genetically associated with mutations in the PITX2 gene, which encodes one of the earliest transcription factors to initiate tooth development. Thus, Pitx2 has long been considered as an upstream regulator of the transcriptional hierarchy in early tooth developm...

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ژورنال

عنوان ژورنال: Human Molecular Genetics

سال: 2013

ISSN: 1460-2083,0964-6906

DOI: 10.1093/hmg/ddt411