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SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability

✍ Scribed by Alexander A. L. Jorge; Silvia C. Souza; Miriam Y. Nishi; Ana E. Billerbeck; Débora C. C. Libório; Chong A. Kim; Ivo J. P. Arnhold; Berenice B. Mendonca


Book ID
108703592
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
267 KB
Volume
0
Category
Article
ISSN
0300-0664

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## Communicated by Iain McIntosh Haploinsufficiency of the short stature homeobox gene SHOX has been found in patients with idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD). In addition to complete gene deletions and nonsense mutations, several missense mutations have been ide