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Article

Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene.

Proceedings of the National Academy of Sciences of the United States of America - 30 Jun 2015

Cai Tao, Yang Liu, Cai Wanshi, Guo Sen, Yu Ping, Li Jinchen, Hu Xueyu, Yan Ming, Shao Qianzhi, Jin Yan, Sun Zhong Sheng, Luo Zhuo-Jing

Abstract excerpt

Spondylolysis is a fracture in part of the vertebra with a reported prevalence of about 3-6% in the general population. Genetic etiology of this disorder remains unknown. The present study was aimed at identifying genomic mutations in patients with dysplastic spondylolysis as well as the potential pathogenesis of the abnormalities. Whole-exome sequencing and functional analysis were performed for patients with...

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PMID: 26077908
DOI: 10.1073/pnas.1502454112
PMCID: PMC4491795

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