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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Axenfeld-Rieger Syndrome with Negative Chromosomal Microarray and Whole-Exome Sequencing: A Case Report

Paulo de Camargo Moraes1, Victor Angelo Martins Montalli1, Marcelo Sperandio1

  • 1Department of Oral Medicine and Pathology, Faculdade São Leopoldo Mandic Research Institute, Campinas, SP, Brazil.

International Medical Case Reports Journal
|March 31, 2026
PubMed
Summary

Axenfeld-Rieger Syndrome (ARS) is a rare genetic disorder. This case highlights a patient with typical ARS features but negative genetic testing, emphasizing the need for clinical diagnosis when molecular confirmation is absent.

Keywords:
Axenfeld-Rieger syndromeFOXC1PITX2craniofacial anomaliesdental anomalies

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