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Article

A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2011

Temiz Fatih, Ozbek Mehmet Nuri, Kotan Damla, Sangun Ozlem, Mungan Neslihan Onenli, Yuksel Bilgin, Topaloglu Ali Kemal

Abstract excerpt

WISP3 is a member of the CCN (for CTGF, CYR61, and NOV) gene family, which encodes cysteine-rich secreted proteins with roles in cell growth and differentiation. Mutations in the WISP3 gene are associated with the autosomal recessive skeletal disorder, also known as progressive pseudorheumatoid arthropathy of childhood (PPAC). We diagnosed three siblings from a non-consanguineous family with PPAC. The patients...

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Identifiers

PMID: 21528827
DOI: 10.1515/jpem.2011.117

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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