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Article

Rhizomelic chondrodysplasia punctata and cardiac pathology.

Journal of medical genetics - 1 Jul 2013

Huffnagel Irene C, Clur Sally-Ann B, Bams-Mengerink Annemieke M, Blom Nico A, Wanders Ronald J A, Waterham Hans R, Poll-The Bwee Tien

Abstract excerpt

BACKGROUND: Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterised by rhizomelia, contractures, congenital cataracts, facial dysmorphia, severe psychomotor defects and growth retardation. Biochemically, the levels of plasmalogens (major constituents of cellular membranes) are low due to a genetic defect in their biosynthesis. Cardiac muscle contains high...

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PMID: 23572185
DOI: 10.1136/jmedgenet-2013-101536

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

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