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

• Główni autorzy: Qiongyi Hu (Autor), Jing Liu (Autor), Yi Wang (Autor), Jiucun Wang (Autor), Hui Shi (Autor), Yue Sun (Autor), Xinyao Wu (Autor), Chengde Yang (Autor), Jialin Teng (Autor)
• Format: Książka
• Wydane: BMC, 2017-12-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: 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...