If we exclude the patients with Leri- Weill syndrome who presented a SHOX gene deletion in 5.4%, in our cohort of patients with ISS the incidence of SHOX gene point mutations was very low (1.5%), suggesting that the presence of mesomelia, minor skeletal abnormalities, and eventually subtle radiographic signs are essential for requiring genetic analysis properly.
The Role of SHOX Gene in Idiopathic Short Stature: an Italian Multicenter Study / R., M., A., V., S., A., D., B., G., B., M., B., C., B., G. M., C., D., C., M., C., M. S. Cocciolij M., D., E., F., M., F., F., G., F., G., L., G., M. C., M., B., M., R., M., G., M., et al.. - In: HORMONE RESEARCH IN PAEDIATRICS. - ISSN 1663-2818. - STAMPA. - 82 (S1):(2014), pp. 129-129. (53rd Annual Meeting of the ESPE Dublin 18-20 settembre 2014).
The Role of SHOX Gene in Idiopathic Short Stature: an Italian Multicenter Study
IUGHETTI, Lorenzo;
2014
Abstract
If we exclude the patients with Leri- Weill syndrome who presented a SHOX gene deletion in 5.4%, in our cohort of patients with ISS the incidence of SHOX gene point mutations was very low (1.5%), suggesting that the presence of mesomelia, minor skeletal abnormalities, and eventually subtle radiographic signs are essential for requiring genetic analysis properly.
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