SHOX-related short stature

Definition:

Isolated short stature, Leri-Weill and Langer syndromes are conditions with growth retardation. Patients also exhibit mesomelic shortening in Leri-Weill and Langer syndromes. These conditions are due to mutations in SHOX gene within the pseudoautosomal regions of sex chromosomes.

References:

[1]. R J Blaschke, et al. SHOX in short stature syndromes. Horm Res. 2001;55 Suppl 1:21-3. [Content Brief]

[2]. Rüdiger Jörg Blaschke, et al. The pseudoautosomal regions, SHOX and disease. Curr Opin Genet Dev. 2006 Jun;16(3):233-9. [Content Brief]

[3]. Sofia K Leka, et al. Short stature and dysmorphology associated with defects in the SHOX gene. Hormones (Athens). 2006 Apr-Jun;5(2):107-18. [Content Brief]

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