A Novel Mutation in PITX2 in a Patient with Axenfeld-Rieger Syndrome

Axenfeld-Rieger syndrome is a rare autosomal dominant condition. Anomalies include anterior segment dysgenesis of the eye, dental anomalies, maxillary hypoplasia, periumbilical anomalies, and congenital heart defects. We report a patient with Peters anomaly, dysmorphic features, congenital heart def...

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Bibliografiske detaljer
Udgivet i:Mol Syndromol
Main Authors: Hassed, Susan J., Li, Shibo, Xu, Weihong, Taylor, Ashley C.
Format: Artigo
Sprog:Inglês
Udgivet: S. Karger AG 2017
Fag:
Novel Insights from Clinical Practice
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5465683/
https://ncbi.nlm.nih.gov/pubmed/28611552
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000454963
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