Cleidocranial dysplasia
| Disorder | |
|---|---|
| OMIM #: | *600211 (Click to access OMIM database) |
| Disorder: | Cleidocranial dysplasia |
| Also known as: | CCD |
| Clinical | |
| Phenotype: | ossification abnormalities, late eruption of teeth, other teeth anomalies, hypoplastic clavicles, delayed closure of fontanelles |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| References 1 Unknown / Other Mennonite |
|
| Gene: | CBFA1 |
| Base Change: | |
| Amino Acid Change: | thr 200 --> ala |
| Last updated: | 2008-08-27 |
| References |
|---|
| Zhou G, Chen Y, Zhou L, Thirunavukkarasu K, Hecht J, Chitayat D, Gelb BD, Pirinen S, Berry SA, Greenberg CR, Karsenty G, Lee B. (1999) CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. Hum Mol Genet 8(12):2311-6. PubMed ID: 10545612 |
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