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Patients with progressive pseudorheumatoid dysplasia: from clinical diagnosis to molecular studies.

Molecular medicine reports - 1 Jan 2012

Ye Jun, Zhang Hui-Wen, Qiu Wen-Juan, Han Lian-Shu, Zhang Ya-Fen, Gong Zhu-Wen, Gu Xue-Fan

Abstract excerpt

Progressive pseudorheumatoid dysplasia (PPD) is a rare inherited autosomal recessive disease for which no prevalent data have been reported in China. We aimed to identify PPD based on clinical manifestations and imaging analysis of the bony skeleton and then to investigate gene mutations of Wnt1-inducible signaling pathway protein 3 (WISP3) in Chinese patients with PPD. Seven patients (aged 9-49 years) from six...

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PMID: 21993478
DOI: 10.3892/mmr.2011.619

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