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...

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Detalles Bibliográficos
Autores principales: Porto, Marianna P. R., Vergani, Naja, Carvalho, Antonio Carlos C., Cernach, Mirlene C. S. P., Brunoni, Decio, Perez, Ana Beatriz A.
Formato: Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2010
Materias:
Human and Medical Genetics
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

Internet

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

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