Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation
Background Cleidocranial dysplasia (CCD, #MIM119600) is an autosomal-dominant skeletal dysplasia characterized by delayed closure of the cranial sutures, aplasia, or hypoplasia of the clavicles and dental abnormalities. These findings were accompanied by mobile and drooping shoulders, frontal and pa...
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| Autors principals: | , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
KeAi Communications Co., Ltd.
2022-03-01
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| Col·lecció: | Global Medical Genetics |
| Matèries: | |
| Accés en línia: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0041-1736482 |
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