A NovelRUNX2Mutation in Cleidocranial Dysplasia Patients
โ 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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๐ SIMILAR VOLUMES
## 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
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