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CGI-58/ABHD5 gene is mutated in Dorfman-Chanarin syndrome

✍ Scribed by Caux, F. ;Selma, Z. Ben ;Laroche, L. ;Prud'homme, J.F. ;Fischer, J.


Book ID
101454310
Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
35 KB
Volume
129A
Category
Article
ISSN
0148-7299

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TBX5, a gene mutated in Holt–Oram syndro
✍ Guifeng Sun; Lisa E. Lewis; Xu Huang; Quang Nguyen; Christopher Price; Taosheng 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 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