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

• Main Authors: Qiongyi Hu (Author), Jing Liu (Author), Yi Wang (Author), Jiucun Wang (Author), Hui Shi (Author), Yue Sun (Author), Xinyao Wu (Author), Chengde Yang (Author), Jialin Teng (Author)
• Format: Book
• Published: BMC, 2017-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 k...