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Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations
Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant disorder, which encompasses a range of congential malformations affecting the anterior segment of the eye. ARS shows genetic heterogeneity and mutations of the two genes, PITX2 and FOXC1, are known to be associated with the pathogenesis. Th...
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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2987033/ https://ncbi.nlm.nih.gov/pubmed/19513095 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.93 |
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