hrp0089p3-p245 | Growth & Syndromes P3 | ESPE2018
Maggio Maria Cristina
, Ragusa Saveria Sabrina
, Miceli Roberto
, Corsello Giovanni
SHOX haploinsufficiency (SHOX-D) is a cause of disharmonic short stature and a possible genetic cause of idiopathic short stature also in familial cases. We describe clinical, hormonal and genetic characteristics of patients with SHOX-D haploinsufficiency, followed and treated in the period 20142017, in a single Italian centre. The Rappold score was used to screen short children, to select those who needed a genetic analysis of SHOX gene by MLPA and sequencing. We select...