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Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia

✍ Scribed by Warman, Matthew L.; Hurvitz, Jennifer R.; Suwairi, Wafaa M.; Van Hul, Wim; El-Shanti, Hatem; Superti-Furga, Andrea; Roudier, Jean; Holderbaum, Daniel; Pauli, Richard M.; Herd, J. Kenneth; Hul, Els Van; Rezai-Delui, Hossien; Legius, Eric; Le Merrer, Martine; Al-Alami, Jamil; Bahabri, Sultan A.


Book ID
109494940
Publisher
Nature Publishing Group
Year
1999
Tongue
English
Weight
318 KB
Volume
23
Category
Article
ISSN
1061-4036

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## Abstract Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive syndrome characterized by the presence of spondyloepiphyseal dysplasia associated with pain, stiffness, and swelling of multiple joints, osteoporosis, and the absence of destructive bone changes. The disorder is