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  • Title: A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings.
    Author: Neerinckx B, Thues C, Wouters C, Lechner S, Westhovens R, Van Esch H.
    Journal: Hum Genome Var; 2015; 2():15049. PubMed ID: 27081554.
    Abstract:
    Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive disease that causes progressive joint stiffness and pain. It is associated with loss-of-function mutations in the WISP3 gene. We describe two sisters suffering from PPD in whom molecular genetic analysis revealed a homozygous deletion of exon 1 and of the 5'UTR of the WISP3 gene. This is the first time that a gross deletion has been described as the causal mutation in PPD.
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