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Article

Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: case report and review.

American journal of medical genetics. Part A - 1 Jul 2003

Wessels Marja W, Den Hollander Nicolette J, De Krijger Ronald R, Nikkels Peter G J, Brandenburg Helen, Hennekam Raoul, Willems Patrick J

Abstract excerpt

Chondrodysplasia punctata (CDP) is a heterogeneous condition mainly characterized by premature and ectopic calcification of cartilage. Many genetic and nongenetic causes have been described leading to a preliminar etiological classification into defects of peroxisomal metabolism, defects in cholesterol metabolism, and vitamin K (vit K) metabolism. However, numerous cases of CDP still remain unclassified. The...

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Identifiers

PMID: 12794700
DOI: 10.1002/ajmg.a.20202

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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