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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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| Publicat a: | Mol Syndromol |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
S. Karger AG
2017
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| Matèries: | |
| Accés en línia: | 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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