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Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation
Cleidocranial dysplasia is an autosomal dominant heritable skeletal disorder. The characteristic features of cleidocranial dysplasia (CCD) may include hypoplasia of the clavicle, delayed closure of frontanelles, late tooth eruption, and other skeletal disorders. This case report describes clinical a...
Autores principales: | Lee, Chaky, Jung, Hee-sup, Baek, Jin-A, Leem, Dae Ho, Ko, Seung-O |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4643116/ https://www.ncbi.nlm.nih.gov/pubmed/26594640 http://dx.doi.org/10.1186/s40902-015-0042-0 |
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