SHOX gene mutation
The short stature homeobox gene (SHOX) is present on the short arm of the X chromosome in band Xp22.3. It is mutated in sporadic and familial cases of Leri-Weill Syndrome. Sporadic mutations are also associated with Madelung's Deformity and Langer mesomelic dysplasia. It is inherited in a pseudoautosomal manner despite being on the X chromosome. The presence of the gene can be confirmed by fluorescent in situ hybridisation.
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