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Craniofacial and dental features of Axenfeld-Rieger syndrome patients with PITX2 mutations.

Orthodontics & craniofacial research - 1 Aug 2023

Arte Sirpa, Pöyhönen Minna, Myllymäki Emmi, Ronkainen Elisa, Rice David P, Nieminen Pekka

Abstract excerpt

We aimed to characterize the genetic basis and craniofacial and dental features of Finnish patients with Axenfeld-Rieger syndrome (ARS). Mutational analyses of seven patients in five families were performed by sequencing or comparative genomic hybridization. Phenotypic analysis was based on both clinical and radiographic examinations, as well as on medical data. Lateral cephalometric radiographs of five patients...

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PMID: 36620911
DOI: 10.1111/ocr.12631

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