The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia.
Bertorelli R; Capone L; Ambrosetti F; Garavelli L; Varriale L; Mazza V; Stanghellini I; Percesepe A; Forabosco A; Clinical Genetics, 2007, vol. 72, issue 5, p 490, ISSN 00099163. ISBN 00099163.

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