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Official Journal of the Human Genome Organisation

Fig. 4 | Genomic Medicine

Fig. 4

From: Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia

Fig. 4

Mapping of the RUNX2 deletion in the CCD family. (a) Sequencing of the inverse PCR products revealed the exact breakage point which is indicated by the arrows. The top and the bottom lines represent the sequences close to the break point in introns 1 and 6, respectively. (b) Schematic of the deletion which is 125.6 kb long and encodes most of the important functional domains of RUNX2

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