Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome

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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Bibliographic Details
Main Authors: Marianna P.R. Porto, Naja Vergani, Antonio Carlos C. Carvalho, Mirlene C.S.P. Cernach, Decio Brunoni, Ana Beatriz A. Perez
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2010-01-01
Series:Genetics and Molecular Biology
Subjects:
Holt-Oram syndrome
congenital heart disease
TBX5 gene
GATA gene
NKX2.5 gene
mutation analysis
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000200006

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000200006

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