Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia

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 WIS...

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Veröffentlicht in:	American journal of medical genetics. Part A 2012-11, Vol.158A (11), p.2820-2828
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Amino Acid Sequence arthropathy Arthropathy, Neurogenic - diagnostic imaging Arthropathy, Neurogenic - genetics Base Sequence Biological and medical sciences Bone dysplasia CCN Intercellular Signaling Proteins - chemistry CCN Intercellular Signaling Proteins - genetics Child Child, Preschool chondrodysplasia Consanguinity Diseases of the osteoarticular system European Continental Ancestry Group - genetics Family Female Gene Order genetics Humans India Infant Joint Diseases - congenital Male Medical genetics Medical sciences Middle Aged Miscellaneous. Osteoarticular involvement in other diseases Molecular Sequence Data Mutation Pedigree progressive pseudorheumatoid dysplasia Radiography Sequence Alignment WISP3 Young Adult
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