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Article

Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot.

American journal of medical genetics. Part A - 1 Dec 2014

Baban Anwar, Postma Alex Vincent, Marini Monica, Trocchio Gianluca, Santilli Antonella, Pelegrini Monica, Sirleto Pietro, Lerone Margherita, Albanese Sonia Bernadette, Barnett Phil, Boogerd Cornelis Job, Dallapiccola Bruno, Digilio Maria Cristina, Ravazzolo Roberto, Pongiglione Giacomo

Abstract excerpt

Tetralogy of Fallot (TOF) (OMIM #187500) is the most frequent conotruncal congenital heart defect (CHD) with a range of intra- and extracardiac phenotypes. TBX5 is a transcription factor with well-defined roles in heart and forelimb development, and mutations in TBX5 are associated with Holt-Oram syndrome (HOS) (OMIM#142900). Here we report on the screening of 94 TOF patients for mutations in TBX5, NKX2.5 and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25263169
DOI: 10.1002/ajmg.a.36783

Genes

TBX5
GATA4

Variants

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Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot.PMID 25263169Read ↗

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Genetic Origins of Tetralogy of Fallot.Semantic proximity Read ↗

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A New TBX5 Loss-of-Function Mutation Contributes to Congenital Heart Defect and Atrioventricular BlockSemantic proximity Read ↗

Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.Semantic proximity Read ↗

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Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.Semantic proximity Read ↗

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