Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas-Reference-Cited by-同舟云学术

Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas

Published:2016-03-09 Issue:1 Volume:17 Page:
ISSN:1471-2156
Container-title:BMC Genetics
language:en
Short-container-title:BMC Genet

Author:

Ishimaru Daichi,Gotoh Masanori,Takayama Shinichiro,Kosaki Rika,Matsumoto Yoshihiro,Narimatsu Hisashi,Sato Takashi,Kimata Koji,Akiyama Haruhiko,Shimizu Katsuji,Matsumoto Kazu

Funder

Grant-in-Aid for Scientific Research from Ministry of Education, Culture, Sports, Science and Technology of Japan

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12863-016-0359-4

Reference24 articles.

1. Akita S, Murase T, Yonenobu K, Shimada K, Masada K, Yoshikawa H. Long-term results of surgery for forearm deformities in patients with multiple cartilaginous exostoses. J Bone Joint Surg Am. 2007;89(9):1993–9.

2. Matsumoto Y, Matsumoto K, Harimaya K, Okada S, Doi T, Iwamoto Y. Scoliosis in patients with multiple hereditary exostoses. Eur Spine J. 2015;24:1568–73.

3. Matsumoto K, Irie F, Mackem S, Yamaguchi Y. A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses. Proc Natl Acad Sci U S A. 2010;107(24):10932–7.

4. Schmale GA, Conrad 3rd EU, Raskind WH. The natural history of hereditary multiple exostoses. J Bone Joint Surg Am. 1994;76(7):986–92.

5. Bovee JV. Multiple osteochondromas. Orphanet J Rare Dis. 2008;3:3.

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