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A novel small deletion mutation in RUNX2 gene in one Chinese family with cleidocranial dysplasia

Cleidocranial dysplasia (CCD) is a skeletal dysplasia with autosomal-dominant inheritance. The runt related transcription factor 2 (RUNX2) gene is the only gene in which mutations are known to cause CCD. We report identification of a novel small deletions mutation in the RUNX2 gene in a Chinese fami...

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Autors principals: Chen, Ting, Hou, Jin, Hu, Ling-Ling, Gao, Jie, Wu, Bu-Ling
Format: Artigo
Idioma:Inglês
Publicat: e-Century Publishing Corporation 2014
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4069909/
https://ncbi.nlm.nih.gov/pubmed/24966961
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