Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia

Cleidocranial dysplasia (CCD; MIM 119600) is a rare autosomal dominant disorder characterized by facial, dental, and skeletal malformations. To date, rearrangement and mutations involving RUNX2, which encodes a transcription factor required for osteoblast differentiation on 6p21, has been the only k...

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Autori principali: Lee, Ming Ta Michael, Tsai, Anne Chun-Hui, Chou, Ching-Heng, Sun, Feng-Mei, Huang, Li-Chen, Yen, Pauline, Lin, Chyi-Chyang, Liu, Chih-Yang, Wu, Jer-Yuarn, Chen, Yuan-Tsong, Tsai, Fuu-Jen
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer Netherlands 2008
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2518658/
https://ncbi.nlm.nih.gov/pubmed/18696259
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s11568-008-9024-y
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