Novel complex disease allele mutations in cleidocranial dysplasia patients-Reference-Cited by-同舟云学术

Novel complex disease allele mutations in cleidocranial dysplasia patients

Published:2014-06-16 Issue:10 Volume:43 Page:798-800
ISSN:0904-2512
Container-title:Journal of Oral Pathology & Medicine
language:en
Short-container-title:J Oral Pathol Med

Author:

Anthonappa Robert P.¹,Yan-Hui Fan²,King Nigel M.¹,Rabie Abu Bakr M.³,You-Qiang Song²

Affiliation:

1. School of Dentistry; The University of Western Australia; Perth Australia

2. Department of Biochemistry and Centre for Reproduction, Development and Growth; LKS Faculty of Medicine; The University of Hong Kong; Hong Kong SAR China

3. Orthodontist, Private Practice; Hong Kong SAR China

Funder

Paediatric Dentistry and Orthodontics, The University of Hong Kong

Publisher

Wiley

Subject

Periodontics,Cancer Research,Otorhinolaryngology,Oral Surgery,Pathology and Forensic Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jop.12198/fullpdf

Reference8 articles.

1. Intra-familial variability in cleidocranial dysplasia: a three-generation family;Chitayat;Am J Hum Genet,1993

2. Cleidocranial dysplasia: etiology and stomatognathic and craniofacial abnormalities;D'Alessandro;Minerva Stomatol,2010

3. Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) Kindred and evidence for locus homogeneity;Ramesar;J Med Genet,1996

4. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia;Mundlos;Cell,1997

5. Effect of cleidocranial dysplasia-related novel mutation of RUNX2 on characteristics of dental pulp cells and tooth development;Xuan;J Cell Biochem,2008

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1. Functional consequences of C-terminal mutations in RUNX2;Scientific Reports;2023-07-27

2. Whole-exome sequencing identification of a novel splicing mutation of RUNX2 in a Chinese family with cleidocranial dysplasia;Archives of Oral Biology;2019-04

3. An 18 bps in-frame deletion mutation in RUNX2 gene is a population polymorphism rather than a pathogenic variant;European Journal of Medical Genetics;2019-02

4. Delayed Eruption of Permanent Dentition and Maxillary Contraction in Patients with Cleidocranial Dysplasia: Review and Report of a Family;International Journal of Dentistry;2018-07-04

5. A novel gene mutation of Runx2 in cleidocranial dysplasia;Current Medical Science;2017-10