Article
Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1.
The Journal of clinical endocrinology and metabolism - 1 Jun 2010
D'haene Barbara, Hellemans Jan, Craen Margarita, De Schepper Jean, Devriendt Koen, Fryns Jean-Pierre, Keymolen Kathelijn, Debals Eveline, de Klein Annelies, de Jong Elisabeth M, Segers Karin, De Paepe Anne, Mortier Geert, Vandesompele Jo, De Baere Elfride
Abstract excerpt
CONTEXT: Short stature has an incidence of three in 100 in children. Reliable molecular genetic testing may be crucial in the context of beneficial disease management. Deletions spanning or surrounding the SHOX gene account for a significant proportion of patients with idiopathic short stature (ISS) and allied disorders, such as Leri-Weill dyschondrosteosis. OBJECTIVE: Several shortcomings of current strategies...
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