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Article

A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family.

Archives of medical research - 1 Feb 2011

Basit Sulman, Iqbal Zafar, Umicevic-Mirkov Masha, Kamran Ul-Hassan Naqvi Syed, Coenen Marieke, Ansar Muhammad, van Bokhoven Hans, Ahmad Wasim

Abstract excerpt

BACKGROUND AND AIMS: Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is an autosomal recessive condition that mostly affects joints and tendons but can also affect the pericardium, which is a surface surrounding the heart. CACP syndrome is caused by mutations in a secreted proteo...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21565623
DOI: 10.1016/j.arcmed.2011.04.006

Genes

PRG4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21565623-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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