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Short stature homeobox-containing gene (SHOX) deficiency

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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  • the short stature homeobox-containing gene (SHOX) is located on the distal ends of X and Y chromosomes and plays a role in long bone growth. Normal growth requires two functional copies of the gene

    • growth impairment can occur if one copy of the SHOX gene has been inactivated by mutation or deleted (haploinsufficiency)

    • SHOX deficiency can cause short stature in people with conditions such as Turner syndrome, Leri-Weil syndrome and dyschondrosteosis

    • based on a small study (26 people with SHOX haploinsufficiency compared with 45 of their unaffected relatives), children with SHOX haploinsufficiency were 3.8 cm shorter (2.1 standard deviations shorter) than their unaffected relatives and this difference persisted throughout their childhood

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