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Article

Rare copy number variants are a common cause of short stature.

PLoS genetics - 1 Jan 2013

Zahnleiter Diana, Uebe Steffen, Ekici Arif B, Hoyer Juliane, Wiesener Antje, Wieczorek Dagmar, Kunstmann Erdmute, Reis André, Doerr Helmuth-Guenther, Rauch Anita, Thiel Christian T

Abstract excerpt

Human growth has an estimated heritability of about 80%-90%. Nevertheless, the underlying cause of shortness of stature remains unknown in the majority of individuals. Genome-wide association studies (GWAS) showed that both common single nucleotide polymorphisms and copy number variants (CNVs) contribute to height variation under a polygenic model, although explaining only a small fraction of overall genetic...

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Identifiers

PMID: 23516380
DOI: 10.1371/journal.pgen.1003365
PMCID: PMC3597495

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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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