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Article

Structural genomic variation as risk factor for idiopathic recurrent miscarriage.

Human mutation - 1 Aug 2014

Nagirnaja Liina, Palta Priit, Kasak Laura, Rull Kristiina, Christiansen Ole B, Nielsen Henriette S, Steffensen Rudi, Esko Tõnu, Remm Maido, Laan Maris

Abstract excerpt

Recurrent miscarriage (RM) is a multifactorial disorder with acknowledged genetic heritability that affects ∼3% of couples aiming at childbirth. As copy number variants (CNVs) have been shown to contribute to reproductive disease susceptibility, we aimed to describe genome-wide profile of CNVs and identify common rearrangements modulating risk to RM. Genome-wide screening of Estonian RM patients and fertile...

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Source

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Identifiers

PMID: 24827138
DOI: 10.1002/humu.22589
PMCID: PMC4285182

Genes

GOLPH3
PDZD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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