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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...

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Detalles Bibliográficos
Autores principales: Lee, Chaky, Jung, Hee-sup, Baek, Jin-A, Leem, Dae Ho, Ko, Seung-O
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2015
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