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Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients

✍ Scribed by L-H. Chen; C-C. Ning; S-C. Chao


Book ID
108671218
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
421 KB
Volume
163
Category
Article
ISSN
0007-0963

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Sporadic case of trichorhinophalangeal s
✍ Vilain, Catheline; Sznajer, Yves; Rypens, FranοΏ½oise; DοΏ½sir, Daniel; Abramowicz, πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 11 KB πŸ‘ 2 views

including sparse hair, a "pearshaped" nose, osteodysplasia with coneshaped epiphyses, and autosomal dominant inheritance, but is distinguished by the presence of severe brachydactyly. TRP III was first described in 1984