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Mutations or deletions of the short stature homeobox-containing gene (SHOX, which is found on the short arm of the X and Y chromosomes in the pseudoautosomal region) are associated with short stature. Researchers screened for SHOX mutations and deletions in 1608 unrelated prepubertal individuals from 14 countries who had idiopathic short stature or Leri-Weill syndrome.
Abnormalities of the SHOX gene were found in 68 individuals (4.2%). Clinical features did not differ significantly between patients with complete deletions and patients with partial deletions. However, significantly more individuals with SHOX abnormalities than without had minor structural bony abnormalities and dysmorphic signs. The authors suggest that any combination of the…