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SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri–Weill dyschondrosteosis

✍ Scribed by K. Hirschfeldova; R. Solc; A. Baxova; J. Zapletalova; V. Kebrdlova; R. Gaillyova; S. Prasilova; J. Soukalova; R. Mihalova; P. Lnenicka; M. Florianova; J. Stekrova


Book ID
116508569
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
402 KB
Volume
491
Category
Article
ISSN
0378-1119

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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