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Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families

✍ Scribed by Claudia Gruenauer-Kloevekorn; Ursula G. Froster


Book ID
113987322
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
293 KB
Volume
46
Category
Article
ISSN
0003-3995

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TBX5, a gene mutated in Holt–Oram syndro
✍ Guifeng Sun; Lisa E. Lewis; Xu Huang; Quang Nguyen; Christopher Price; Taosheng πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 262 KB

## Abstract __TBX5__ is a member of the T‐box gene family and encodes a transcription factor that regulates the expression of other gene(s) in the developing heart and limbs. Mutations of TBX5 cause Holt–Oram syndrome (HOS), an autosomal dominant condition characterized by congenital heart defects

Expanding the spectrum of TBX5 mutations
✍ Wiktor Borozdin; Ana M. Bravo Ferrer Acosta; Michael J. Bamshad; Elke M. Botzenh πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 151 KB πŸ‘ 1 views

Mutations in the gene TBX5 cause Holt-Oram syndrome (HOS), an autosomal dominant disorder characterized by anterior (i.e., radial ray) upper limb malformations and congenital heart defects and/or cardiac conduction anomalies. The detection rate for TBX5 mutations in HOS patients has been given as 30