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RUNX2 mutations in cleidocranial dysplasia patients

โœ Scribed by H-M Ryoo; H-Y Kang; S-K Lee; K-E Lee; J-W Kim

Book ID
111272448
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
763 KB
Volume
16
Category
Article
ISSN
1354-523X

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## Communicated by Gregg Semenza Cleidocranial dysplasia (CCD) is a autosomal dominant disorder characterized by skeletal anomalies such as patent fontanels, late closure of cranial sutures with Wormian bones, late erupting secondary dentition, rudimentary clavicles, and short stature. The locus f

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We report clinical and molecular findings in 14 patients with cleidocranial dysplasia (CCD), a well defined skeletal disorder with characteristic clinical findings and autosomal dominant inheritance. We identified ten heterozygous base changes in the RUNX2 gene, including six novel mutations [c.522i