Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children

ConclusionGenetic analysis is a useful tool in the diagnostic workup of patients with SS, in adapting management and treatment, and in identifying syndromes with mild atypical clinical features. The role of VUS should not be underestimated, particularly when multiple VUS with possible mutual worsening effects are present in the same child.
Source: Journal of Endocrinological Investigation - Category: Endocrinology Source Type: research