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Article

Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.

American journal of medical genetics. Part A - 15 Jul 2008

Kantarci Sibel, Ragge Nicola K, Thomas N Simon, Robinson David O, Noonan Kristin M, Russell Meaghan K, Donnai Dian, Raymond F Lucy, Walsh Christopher A, Donahoe Patricia K, Pober Barbara R

Abstract excerpt

Donnai-Barrow syndrome [Faciooculoacousticorenal (FOAR) syndrome; DBS/FOAR] is a rare autosomal recessive disorder resulting from mutations in the LRP2 gene located on chromosome 2q31.1. We report a unique DBS/FOAR patient homozygous for a 4-bp LRP2 deletion secondary to paternal uniparental isodisomy for chromosome 2. The propositus inherited the mutation from his heterozygous carrier father, whereas the mother...

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Source

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Identifiers

PMID: 18553518
DOI: 10.1002/ajmg.a.32381
PMCID: PMC2891749

Genes

LRP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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