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Advanced Copy Number Variant Analysis with qbasePLUS 2
Poster

Advanced Copy Number Variant Analysis with qbasePLUS 2

Advanced Copy Number Variant Analysis with qbasePLUS 2
Poster

Advanced Copy Number Variant Analysis with qbasePLUS 2

Deletions spanning or surrounding the SHOX gene account for a significant proportion of patients with idiopathic short stature (IAA) and allied disorders, such as Leri-Weill dyschondrosteosis (LWD). To allow fast and reliable molecular testing, D’haene et al. (JCEM, 2010) introduced a quantitative PCR (qPCR) based copy number profiling test, consisting of 11 amplicons targeting clinically relevant regions.

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