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  • Title: [From gene to disease; from SHOX to Lèri-Weill dyschondrosteosis, Turner syndrome and idiopathic short stature].
    Author: Kant SG, Drop SL.
    Journal: Ned Tijdschr Geneeskd; 2001 Jul 28; 145(30):1456-9. PubMed ID: 11503314.
    Abstract:
    Léri-Weill dyschondrosteosis is a pseudodominant hereditary skeletal dysplasia associated with haploinsufficiency of the SHOX gene. The SHOX gene is located on the pseudoautosomal region of both the X-chromosome and the Y-chromosome, and belongs to the homeobox genes, which code for transcription factors involved in early foetal development. Mutations in the SHOX gene, especially deletions, are detected in approximately 60% of patients with Léri-Weill dyschondrosteosis. The SHOX gene is also involved in skeletal abnormalities in Turner syndrome and possibly plays a role in idiopathic short stature.
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