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Fig. 2 | Journal of Translational Medicine

Fig. 2

From: Duplications involving the long range HMX1 enhancer are associated with human isolated bilateral concha-type microtia

Fig. 2

Detected duplications involving the long range HMX1 Enhancer in five families. a Whole genome sequencing indicated duplications in F1. Red bar shows the duplicated region. b Duplications detected by array-CGH in F2-F5. Blue arrows show where the probes detected 3 copies. c qPCR assays in the HMX1-ECR region confirm the duplication and co-segregation status with phenotype in five families

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