Article
Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain.
Journal of medical genetics - 1 Dec 2009
Chen J, Wildhardt G, Zhong Z, Röth R, Weiss B, Steinberger D, Decker J, Blum W F, Rappold G
Abstract excerpt
BACKGROUND: Mutations and deletions of the homeobox transcription factor gene SHOX are known to cause short stature. The authors have analysed SHOX enhancer regions in a large cohort of short stature patients to study the importance of regulatory regions in developmentally relevant genes like SHOX. METHODS: The authors tested for the presence of copy number variations in the pseudoautosomal region of the sex...
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