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

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 spinal defor...

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Detalles Bibliográficos
Autores principales: Li, Yan, Zeng, Yan, Chen, Zhongqiang, Xin, Haisong, Li, Xiaoliang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330477/
https://www.ncbi.nlm.nih.gov/pubmed/30635069
http://dx.doi.org/10.1186/s13018-019-1061-9