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Novel Mutation of Cleidocranial Dysplasia-related Frameshift Runt-related Transcription Factor 2 in a Sporadic Chinese Case
BACKGROUND: Cleidocranial dysplasia (CCD) is an autosomal dominant disease that affects the skeletal system. Common symptoms of CCD include hypoplasia or aplasia of the clavicles, delayed or even absent closure of the fontanels, midface hypoplasia, short stature, and delayed eruption of permanent an...
Autores principales: | Qin, Xue-Yan, Jia, Pei-Zeng, Zhao, Hua-Xiang, Li, Wei-Ran, Chen, Feng, Lin, Jiu-Xiang |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5282673/ https://www.ncbi.nlm.nih.gov/pubmed/28091408 http://dx.doi.org/10.4103/0366-6999.197996 |
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