HIGHLIGHTS
SUMMARY
The latest are gene mutations of different local factors associated with short stature and phenotypes varying from severe, disharmonious dwarfism to subclinical skeletal dysplasia. The treatment response is better in patients with deletions in the SHOX gene enhancer area than in those with deletions in the SHOX gene. The risk of a child inheriting the SHOX gene deficiency is 50% when one of the parents is affected; if both parents are SHOX gene-deficient, there is a 50% risk of moderate-to-mild hypostature by SHOX deficiency, a 25% chance of severe Langer dwarfism . . .
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