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...

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Detalles Bibliográficos
Autores principales: Qin, Xue-Yan, Jia, Pei-Zeng, Zhao, Hua-Xiang, Li, Wei-Ran, Chen, Feng, Lin, Jiu-Xiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Original Article
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

Internet

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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