Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency
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DOI: 10.1038/s41431-020-0676-y
Abstract: SHOX haploinsufficiency causes 70–90% of Léri-Weill dyschondrosteosis (LWD) and 2–10% of idiopathic short stature (ISS). Deletions removing the entire gene or enhancers and point mutations in the coding region represent a well-established cause of haploinsufficiency.… read more here.
Keywords: haploinsufficiency variants; shox haploinsufficiency; haploinsufficiency; shox expression ... See more keywords