Progressive pseudorheumatoid dysplasia confirmed by whole-exon sequencing in a Chinese adult before corrective surgery

Abstract Background Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive skeletal dysplasia caused by mutations in the Wnt1-inducible signaling pathway protein 3 (WISP3) gene. Available literatures in PPD emphasized treatment strategy for polyarthritis, while few mentioned spin...

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Bibliographic Details
Main Authors: Yan Li, Yan Zeng, Zhongqiang Chen, Haisong Xin, Xiaoliang Li
Format: Article
Language:English
Published: BMC 2019-01-01
Series:Journal of Orthopaedic Surgery and Research
Subjects:
Online Access:http://link.springer.com/article/10.1186/s13018-019-1061-9