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BIPARTITE SCAPHOID WITH PROXIMAL POLE OSTEONECROSIS IN A PATIENT WITH HOLT-ORAM SYNDROME

✍ Scribed by D.E TATE; A GUPTA; H.E KLEINERT

Book ID
117838472
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
228 KB
Volume
25
Category
Article
ISSN
0363-5023

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Three novel TBX5 mutations in Chinese pa
Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome
✍ Yang, Jinfu; Hu, Dongxu; Xia, Jiahui; Yang, Yifeng; Ying, Bangliang; Hu, Jianguo πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 28 KB πŸ‘ 2 views

Holt-Oram syndrome (HOS) is an autosomal dominant syndrome that comprises upper limb and cardiac defects. The gene responsible for HOS, TBX5, was isolated and many mutations have been identified in HOS patients. We analyzed 11 Chinese HOS patients (7 from three families and 4 sporadic cases) for TBX