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A de novo mutation affecting human TrkB associated with severe obesity and developmental delay

✍ Scribed by Yeo, Giles S H; Connie Hung, Chiao-Chien; Rochford, Justin; Keogh, Julia; Gray, Juliette; Sivaramakrishnan, Shoba; O'Rahilly, Stephen; Farooqi, I Sadaf


Book ID
109940515
Publisher
Nature Publishing Group
Year
2004
Tongue
English
Weight
887 KB
Volume
7
Category
Article
ISSN
1097-6256

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## Abstract We describe a patient with multiple congenital anomalies including tracheobronchomalacia, CT‐proven metopic craniosynostosis, glandular hypospadias and severe ventral chordee, torticollis, esotropia, strabismus, fifth finger clinodactyly, hallux valgus, and global developmental delay. U