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Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis

✍ Scribed by Shears, Deborah J.; Vassal, Humberto J.; Goodman, Frances R.; Palmer, Rodger W.; Reardon, William; Superti-Furga, Andrea; Scambler, Peter J.; Winter, Robin M.


Book ID
109915015
Publisher
Nature Publishing Group
Year
1998
Tongue
English
Weight
453 KB
Volume
19
Category
Article
ISSN
1061-4036

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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