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Two common and three novel PDS mutations in Thai patients with Pendred syndrome

✍ Scribed by Snabboon, T.; Plengpanich, W.; Saengpanich, S.; Sirisalipoch, S.; Keelawat, S.; Sunthornyothin, S.; Khovidhunkit, W.; Suwanwalaikorn, S.; Sridama, V.; Shotelersuk, V.

Book ID
125337635
Publisher
Springer-Verlag
Year
2007
Tongue
English
Weight
138 KB
Volume
30
Category
Article
ISSN
0391-4097

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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