Article
SHOX intragenic microsatellite analysis in patients with short stature.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Feb 2002
Ezquieta Begoña, Cueva Elena, Oliver Antonio, Gracia Ricardo
Abstract excerpt
BACKGROUND: SHOX haplo-insufficiency is considered the molecular basis of short stature in patients with Turner's syndrome, and gives rise to the short stature with mesomelic dysplasia and Madelung deformity of patients with Leri-Weill syndrome. OBJECTIVE: Analysis of the intragenic SHOX microsatellite to define its utility in detecting SHOX haplo-insufficiency in patients with short stature. PATIENTS AND...
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