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Article

Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome.

American journal of medical genetics. Part A - 1 Sept 2014

Lindy Amanda S, Bupp Caleb P, McGee Stephen J, Steed Erin, Stevenson Roger E, Basehore Monica J, Friez Michael J

Abstract excerpt

Cenani-Lenz syndrome (CLS) is an autosomal recessive skeletal dysplasia that results in malformations of the distal limb, renal anomalies, and characteristic facies. In 2010, this condition was found to be caused by mutations in LRP4, a member of the low-density lipoprotein family of receptors. L...

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Source

Identifiers

PMID: 24924585
DOI: 10.1002/ajmg.a.36647

Genes

LRP4
LRP5
LRP6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24924585-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome.PMID 24924585Read ↗

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