Results 151 to 155 of about 3,991 (155)

An R223P mutation in EXT2 gene causes hereditary multiple exostoses

Human Mutation, 2000
Y R, Shi, J Y, Wu, F J, Tsai, C C, Lee, C H, Tsai   +4 more
openaire   +2 more sources

[A new EXT2 mutation in a Chinese family with hereditary multiple exostoses].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2009
Hereditary multiple exostoses (HME) is an autosomal dominant disorder characterized by formation of benign cartilage-capped tumors (exostoses), typically located at the juxtaepiphyseal regions of long bones. It is genetically heterogeneous with at least three chromosomal loci: EXT1 on 8q24.1, EXT2 on 11p11, and EXT3 on 19p.
Wen-qiu, Zhao, Shu-juan, Song, Qing, Wei, Jie, Qiao   +3 more
openaire   +1 more source

[Mutation analysis of EXT2 gene in a family with hereditary multiple exostosis].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2015
To investigate EXT1 and EXT2 genes mutations in a family with hereditary multiple osteochondromas (HME).A four-generation family with HME from Linyi city of Shandong Province was studied. There were 6 affected individuals among the 17 family members. Physical examination and radiographical evaluations were carried out for all family members.
Lin, Li, Xiao, Li, Yongchao, Liu, Shuqi, Zheng, Jixia, Zhang, Qiji, Liu, Xueyuan, Heng   +6 more
openaire   +1 more source

Human gene mutations. Gene symbol: EXT2. Disease: exostoses (multiple) 2.

Human genetics, 2008
Wei-De, Lin, Chang-Hai, Tsai, Chih-Ping, Chen, Fuu-Jen, Tsai   +3 more
openaire   +1 more source

Molecular basis of multiple exostoses: mutations in EXT1 and EXT2 genes

2000
Wuyts, Wim, Van Hul, Wim
openaire   +1 more source