Literature DB >> 31875450

[Cleidocranial dysplasia: a case report and gene mutation analysis].

Ling-Yan Guo1, Pei-Qiong Xu2, Lin-Lin Chen1.   

Abstract

Cleidocranial dysplasia is a rare autosomal dominant hereditary disease characterized by abnormal skeletal and dental development. In this work, a case of cleidocranial dysplasia is reported, and a new frameshift mutation is confirmed by gene detection.

Entities:  

Keywords:  autosomal dominant inheritance; cleidocranial dysplasia; gene mutation

Mesh：

Substances：

Year:  2019        PMID： 31875450      PMCID： PMC7030764          DOI： 10.7518/hxkq.2019.06.019

Source DB:  PubMed          Journal:  Hua Xi Kou Qiang Yi Xue Za Zhi        ISSN： 1000-1182


  9 in total

1.  Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.

Authors:  B Lee; K Thirunavukkarasu; L Zhou; L Pastore; A Baldini; J Hecht; V Geoffroy; P Ducy; G Karsenty
Journal:  Nat Genet       Date:  1997-07       Impact factor: 38.330

Review 2.  Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.

Authors:  A Jaruga; E Hordyjewska; G Kandzierski; P Tylzanowski
Journal:  Clin Genet       Date:  2016-06-30       Impact factor: 4.438

Review 3.  Runx2 and dental development.

Authors:  Simon Camilleri; Fraser McDonald
Journal:  Eur J Oral Sci       Date:  2006-10       Impact factor: 2.612

4.  Cleidocranial dysplasia: Part 2--Treatment protocol for the orthodontic and surgical modality.

Authors:  A Becker; A Shteyer; E Bimstein; J Lustmann
Journal:  Am J Orthod Dentofacial Orthop       Date:  1997-02       Impact factor: 2.650

5.  Cleidocranial dysplasia: radiological appearances on dental panoramic radiography.

Authors:  C M McNamara; B C O'Riordan; M Blake; J R Sandy
Journal:  Dentomaxillofac Radiol       Date:  1999-03       Impact factor: 2.419

6.  Cleidocranial dysplasia: Part 1--General principles of the orthodontic and surgical treatment modality.

Authors:  A Becker; J Lustmann; A Shteyer
Journal:  Am J Orthod Dentofacial Orthop       Date:  1997-01       Impact factor: 2.650

7.  Titanium screw anchorage for traction of many impacted teeth in a patient with cleidocranial dysplasia.

Authors:  Shingo Kuroda; Takeshi Yanagita; Hee-Moon Kyung; Teruko Takano-Yamamoto
Journal:  Am J Orthod Dentofacial Orthop       Date:  2007-05       Impact factor: 2.650

Review 8.  Cleidocranial dysplasia: report of 3 cases and literature review.

Authors:  Zheng Shen; Chao Chun Zou; Rong Wang Yang; Zheng Yan Zhao
Journal:  Clin Pediatr (Phila)       Date:  2008-10-02       Impact factor: 1.168

9.  Aesthetic Facial Correction of Cleidocranial Dysplasia.

Authors:  So-Min Hwang; Beom Park; Min-Kyu Hwang; Min-Wook Kim; Jong-Seo Lee
Journal:  Arch Craniofac Surg       Date:  2016-06-21
  9 in total

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