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SHOX gene in Leri-Weill syndrome and in idiopathic short stature

✍ Scribed by Bernasconi, Sergio; Mariani, S.; Falcinelli, C.; Milioli, S.; Iughetti, L.; Forabosco, A.

Book ID: 125334842
Publisher: Springer-Verlag
Year: 2001
Tongue: English
Weight: 79 KB
Volume: 24
Category: Article
ISSN: 0391-4097
DOI: 10.1007/BF03343919

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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