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Holt-Oram Syndrome: Family Affected Without TBX5 Mutation and Without Phenotype Manifestations in a Probable Mutation Carrier

✍ Scribed by Nekane Murga-Eizagaechevarria; Maria Garcia-Barcina; Esther Sarasola Diez


Book ID
118499447
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
605 KB
Volume
64
Category
Article
ISSN
1885-5857

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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