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Article

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.

European journal of human genetics : EJHG - 1 Nov 2011

Laccone Franco, Schoner Katharina, Krabichler Birgit, Kluge Britta, Schwerdtfeger Robin, Schulze Bernt, Zschocke Johannes, Rehder Helga

Abstract excerpt

We report on three hydropic fetuses of 17, 22 and 25 gestational weeks from three distinct families presenting with Desbuquois dysplasia type 1. All fetuses showed brachymelia and characteristic dysmorphic features. X-ray studies revealed δ-shaped extraphalangeal bones and disease-specific prominence of the lesser trochanter, varying in severity with fetal age. Early lethal manifestation of the disorder was...

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Source

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Identifiers

PMID: 21654728
DOI: 10.1038/ejhg.2011.101
PMCID: PMC3198135

Genes

CANT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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