Delayed-onset of progressive pseudorheumatoid dysplasia in a Chinese adult with a novel compound WISP3 mutation: a case report

BACKGROUND: Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive genetic disease that is characterized by pain, stiffness and enlargement of multiple joints with an age of onset between 3 and 8 years old. Mutations in the WISP3 (Wnt1-inducible signal pathway) gene are known to...

Descripción completa

Detalles Bibliográficos
Autores principales: Hu, Qiongyi, Liu, Jing, Wang, Yi, Wang, Jiucun, Shi, Hui, Sun, Yue, Wu, Xinyao, Yang, Chengde, Teng, Jialin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732398/
https://www.ncbi.nlm.nih.gov/pubmed/29246200
http://dx.doi.org/10.1186/s12881-017-0507-3

Ejemplares similares

Ejemplares similares