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Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome
The Holt-Oram syndrome (HOS) is an autosomal dominant condition characterized by upper limb and cardiac malformations. Mutations in the TBX5 gene cause HOS and have also been associated with isolated heart and arm defects. Interactions between the TBX5, GATA4 and NKX2.5 proteins have been reported i...
| Autores principales: | , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Sociedade Brasileira de Genética
2010
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3036863/ https://www.ncbi.nlm.nih.gov/pubmed/21637475 http://dx.doi.org/10.1590/S1415-47572010005000051 |