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Fig. 3 | BMC Medical Genomics

Fig. 3

From: Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review

Fig. 3

Quantitative PCR validation of the SHANK3 gene and FBLN1 gene (positive control). Relative quantitation (RQ) of the copy number was analyzed by the CT method, and error bars represent the standard deviation. The GAPDH gene served as the reference gene (control group). Both copies of the SHANK3 gene have been retained in the patients and their parents, and the copy numbers of the FBLN1 gene in the patients were only approximately half of the values in the control group, confirming that the patients carry a de novo 22q13.31-q13.33 deletion not involving the SHANK3 gene

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