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Article

Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases.

Pediatric cardiology - 1 Oct 2011

Hills Christine B, Kochilas Lazaros, Schimmenti Lisa A, Moller James H

Abstract excerpt

Ellis-van Creveld (EVC) syndrome is a rare genetic abnormality that has been linked to a mutation in the EVC or EVC2 genes. Common atrium (CA) is an uncommon cardiac malformation, and yet it is commonly found in patients with EVC. We performed a retrospective review of the cases submitted to the Pediatric Cardiac Care Consortium (PCCC) between 1982 and 2007. A review of the English-language literature for...

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Source

Identifiers

PMID: 21533779
DOI: 10.1007/s00246-011-0006-9

Genes

EVC
EVC2

Provenance

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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Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases.PMID 21533779Read ↗

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