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In this study, we presented the clinical spectrum and molecular findings of 15 patients with  gene mutations or deletions.  deficiency should be especially considered in patients who have disproportionate short stature or forearm anomalies with/without short stature. Although most of the patients had a partial or whole gene deletions,  gene sequencing should be performed in suspected cases. Furthermore, conductive hearing loss may rarely accompany these clinical manifestations.

Detection of <i>SHOX</i> Gene Variations in Patients Who Had Skeletal Abnormalities With/Without Short Stature