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Fig. 2 | Molecular Cytogenetics

Fig. 2

From: Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

Fig. 2

Dosage of PTPRD gene content using quantitative PCR. The bars represent the relative quantification of each sample. a The proband has zero copies of the first deletion within the PTPRD gene (chr9:8,527,597-9,248,069) and b zero copies of the second deletion touching this gene (chr9:9,316,105-9,491,477) whereas his parents and brother have a single copy compared to controls. P: patient, F: father, M: mother, B: brother, C1,C2, and C3: controls

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