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Article

Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.

Human mutation - 1 Jun 2018

Sukenik Halevy Rivka, Chien Huan-Chieh, Heinz Bo, Bamshad Michael J, Nickerson Deborah A, Kircher Martin, Ahituv Nadav

Abstract excerpt

Isolated hand syndactyly is a common limb malformation with limited known genetic etiology. We used exome sequencing to discover two novel variants, chr11 g.46896373C>G; p.D1403H and chr11 g.46893078G>T; p.Q1564K, in LRP4 in a child with isolated bilateral syndactyly of the third and fourth fingers. Each variant was inherited from a different parent and neither parent was affected. Variants in LRP4 have been...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Limb Deformities, Congenital

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Source

Open in PubMed Open full text

Identifiers

PMID: 29524275
DOI: 10.1002/humu.23417
PMCID: PMC5992059

Genes

LRP4
LRP5
LRP6

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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