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Article

Novel PRG4 mutations underlie CACP in Saudi families.

Human mutation - 1 Feb 2006

Alazami Anas M, Al-Mayouf Sulaiman M, Wyngaard Carol-Ann, Meyer Brian

Abstract excerpt

The camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is an autosomal recessive disorder caused by mutations in the PRG4 (Proteoglycan 4) gene. Manifestations vary across families as well as between affected individuals from the same family, with camptodactyly and arthropathy of the knees the most ubiquitous, while pericarditis is evident in only one-fifth of all reported cases. Thus far only eight...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16429407
DOI: 10.1002/humu.9399

Genes

PRG4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel PRG4 mutations underlie CACP in Saudi families.PMID 16429407Read ↗

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