Alternative Genetic Diagnoses in Axenfeld–Rieger Syndrome Spectrum

Alternative Genetic Diagnoses in Axenfeld–Rieger Syndrome Spectrum

Axenfeld–Rieger anomaly (ARA) is a specific ocular disorder that is frequently associated with other systemic abnormalities. <i>PITX2</i> and <i>FOXC1</i> variants explain the majority of individuals with Axenfeld–Rieger syndrome (ARS) but leave ~30% unsolved. Here, we presen...

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Bibliographic Details
Main Authors: Linda M. Reis, David J. Amor, Raad A. Haddad, Catherine B. Nowak, Kim M. Keppler-Noreuil, Smith Ann Chisholm, Elena V. Semina
Format: Article
Language:English
Published: MDPI AG 2023-10-01
Series:Genes
Subjects:
Axenfeld–Rieger anomaly
Axenfeld–Rieger syndrome
<i>USP9X</i>
<i>JAG1</i>
<i>CDK13</i>
<i>BCOR</i>
Online Access:https://www.mdpi.com/2073-4425/14/10/1948

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https://www.mdpi.com/2073-4425/14/10/1948

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