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A NovelRUNX2Mutation in Cleidocranial Dysplasia Patients

โœ Scribed by Dongying Xuan; Shi Li; Xiong Zhang; Lixin Lin; Chunxian Wang; Jincai Zhang


Book ID
111707601
Publisher
Springer
Year
2008
Tongue
English
Weight
257 KB
Volume
46
Category
Article
ISSN
0006-2928

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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