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An Unusual Class of PITX2 Mutations in Axenfeld-Rieger Syndrome
BACKGROUND: Mutations in the PITX2 homeobox gene are known to contribute to Axenfeld-Rieger syndrome (ARS), an autosomal-dominant developmental disorder. Although most mutations are in the homeodomain and result in a loss of function, there is a growing subset in the C-terminal domain that has not y...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2006
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4023635/ https://ncbi.nlm.nih.gov/pubmed/16498627 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/bdra.20226 |
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