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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Bibliographische Detailangaben
Hauptverfasser: Porto, Marianna P. R., Vergani, Naja, Carvalho, Antonio Carlos C., Cernach, Mirlene C. S. P., Brunoni, Decio, Perez, Ana Beatriz A.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Sociedade Brasileira de Genética 2010
Schlagworte:
Human and Medical Genetics
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3036863/
https://ncbi.nlm.nih.gov/pubmed/21637475
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/S1415-47572010005000051
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