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PTPN11 gene duplication does not represent a major event in NS. Quantitative real-time PCR analysis was used to check for changes in PTPN11 copy number in a cohort of 250 NS cases without a mutation in known NS disease-causing genes. Two coding regions of the gene (exon 5 and exon 9) were analyzed, and none of the cases produced results in the duplicated range.
