Article
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.
American journal of medical genetics. Part A - 1 Nov 2012
Dalal Ashwin, Bhavani G Sri Lakshmi, Togarrati Padma Priya, Bierhals Tatjana, Nandineni Madhusudan R, Danda Sumita, Danda Debashish, Shah Hitesh, Vijayan Sandeep, Gowrishankar Kalpana, Phadke Shubha R, Bidchol Abdul Mueed, Rao Anand Prahalad, Nampoothiri Sheela, Kutsche Kerstin, Girisha K M
Abstract excerpt
Progressive pseudorheumatoid dysplasia (PPD) is a progressive skeletal syndrome characterized by stiffness, swelling and pain in multiple joints with associated osteoporosis in affected patients. Radiographically, the predominant features resemble a spondyloepiphyseal dysplasia. Mutations in the WISP3 gene are known to cause this autosomal recessive condition. To date, only a limited number of studies have looked...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.