Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families
β 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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## Abstract __TBX5__ is a member of the Tβbox 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 HoltβOram syndrome (HOS), an autosomal dominant condition characterized by congenital heart defects
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