Human gene mutation in pathology and evolution
β Scribed by D. N. Cooper
- Book ID
- 110339695
- Publisher
- Springer
- Year
- 2002
- Tongue
- English
- Weight
- 178 KB
- Volume
- 25
- Category
- Article
- ISSN
- 0141-8955
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## Saethre -Chotzen syndrome is a relatively common craniosynostosis disorder with autosomal dominant inheritance. Mutations in the TWIST gene have been identified in patients with Saethre-Chotzen syndrome. The TWIST gene product is a transcription factor with DNA binding and helix-loop-helix domai
Germline mutations of the TBX5 gene were identified as the primary cause in up to 70 % of patients with Holt-Oram syndrome (HOS), an autosomal dominant disorder characterized by malformations of the upper limbs and cardiac defects. Furthermore, somatic mutations of the TBX5 gene have been described