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Human gene mutation in pathology and evolution

✍ 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

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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