Novel Mutation of Cleidocranial Dysplasia-related Frameshift Runt-related Transcription Factor 2 in a Sporadic Chinese Case

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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Bibliographic Details
Main Authors: Xue-Yan Qin, Pei-Zeng Jia, Hua-Xiang Zhao, Wei-Ran Li, Feng Chen, Jiu-Xiang Lin
Format: Article
Language:English
Published: Wolters Kluwer 2017-01-01
Series:Chinese Medical Journal
Subjects:
Cleidocranial Dysplasia; Frameshift Mutation; Runt-related Transcription Factor 2
Online Access:http://www.cmj.org/article.asp?issn=0366-6999;year=2017;volume=130;issue=2;spage=165;epage=170;aulast=Qin

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http://www.cmj.org/article.asp?issn=0366-6999;year=2017;volume=130;issue=2;spage=165;epage=170;aulast=Qin

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