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Article

WISP3 mutation associated with pseudorheumatoid dysplasia.

Cold Spring Harbor molecular case studies - 1 Feb 2018

Sailani M Reza, Chappell James, Jingga Inlora, Narasimha Anil, Zia Amin, Lynch Janet Linnea, Mazrouei Safoura, Bernstein Jonathan A, Aryani Omid, Snyder Michael P

Abstract excerpt

Progressive pseudorheumatoid dysplasia (PPD) is a skeletal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness. Here we report genetic characterization of a consanguineous family segregating an uncharacterized from of skeletal dysplasia. Whole-exome sequencing of four affected siblings and their parents identified a loss-of-function homozygous mutation in the...

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Identifiers

PMID: 29092958
DOI: 10.1101/mcs.a001990
PMCID: PMC5793776

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