Whole-exome sequencing identification of a novel splicing mutation of RUNX2 in a Chinese family with cleidocranial dysplasia
Author:
Funder
Key Project for Tianjin Health Industry, China
Publisher
Elsevier BV
Subject
Cell Biology,General Dentistry,General Medicine,Otorhinolaryngology
Reference27 articles.
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2. Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations;Cunningham;Birth Defects Research Part A, Clinical and Molecular Teratology,2006
3. Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families;Dincsoy Bir;European Journal of Medical Genetics,2017
4. A novel single-base deletion mutation of the RUNX2 gene in a Chinese family with cleidocranial dysplasia;Fang;Genetics and Molecular Research,2011
5. Novel RUNX2/CBFA1 mutation in the runt domain in a Japanese patient with cleidocranial dysplasia;Goto;Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology,2017
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1. A Case Series of Three Patients with Cleidocranial Dysplasia: Clinical Presentation and Diagnostic Considerations;The Cleft Palate Craniofacial Journal;2024-02-27
2. A Novel Runx2 Splice Site Mutation in Chinese Associated with Cleidocranial Dysplasia;2024
3. A Novel 90-kbp Deletion of RUNX2 Associated with Cleidocranial Dysplasia;Genes;2022-06-23
4. Genome sequencing identified a novel exonic microdeletion in the RUNX2 gene that causes cleidocranial dysplasia;Clinica Chimica Acta;2022-03
5. Whole-exome sequencing of a novel initiation codon mutation in RUNX2 in a Chinese family with cleidocranial dysplasia;Medicine;2021-11-12
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