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Article

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.

Nature genetics - 1 Aug 2007

Kantarci Sibel, Al-Gazali Lihadh, Hill R Sean, Donnai Dian, Black Graeme C M, Bieth Eric, Chassaing Nicolas, Lacombe Didier, Devriendt Koen, Teebi Ahmad, Loscertales Maria, Robson Caroline, Liu Tianming, MacLaughlin David T, Noonan Kristin M, Russell Meaghan K, Walsh Christopher A, Donahoe Patricia K, Pober Barbara R

Abstract excerpt

Donnai-Barrow syndrome is associated with agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing loss and developmental delay. By studying multiplex families, we mapped this disorder to chromosome 2q23.3-31.1 and identified...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17632512
DOI: 10.1038/ng2063
PMCID: PMC2891728

Genes

LRP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17632512-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.PMID 17632512Read ↗

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