A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review-Reference-Cited by-同舟云学术

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A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review

Published:2017-01-06 Issue:1 Volume:17 Page:
ISSN:1471-2377
Container-title:BMC Neurology
language:en
Short-container-title:BMC Neurol

Author:

Hsueh Sung-Ju,Lee Ni-Chung,Yang Shu-Hua,Lin Han-I,Lin Chin-Hsien

Funder

Ministry of Science and Technology of Taiwan

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s12883-016-0781-2.pdf

Reference19 articles.

1. Brueton LA, Reeve A, Ellis R, Husband P, Thompson EM, Kingston HM. Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals. Am J Med Genet. 1992;43:612–8.

2. Mundlos S. Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet. 1999;36:177–82.

3. Lee B, Thirunavukkarasu K, Zhou L, Pastore L, Baldini A, Hecht J, et al. Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. Nat Genet. 1997;16:307–10.

4. Komori T. Regulation of osteoblast differentiation by transcription factors. J Cell Biochem. 2006;99:1233–9.

5. Tanaka T, Sato H, Doi H, Yoshida CA, Shimizu T, Matsui H, et al. Runx2 represses myocardin-mediated differentiation and facilitates osteogenic conversion of vascular smooth muscle cells. Mol Cell Biol. 2008;28:1147–60.

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Detection and diagnosis of cleidocranial dysplasia by panoramic radiography: a retrospective study;BMC Oral Health;2022-12-01

2. A Novel 90-kbp Deletion of RUNX2 Associated with Cleidocranial Dysplasia;Genes;2022-06-23

3. Molecular Genetics of Cleidocranial Dysplasia;Fetal and Pediatric Pathology;2020-01-26

4. 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

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

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