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Article

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia.

PLoS genetics - 1 Mar 2011

Glazov Evgeny A, Zankl Andreas, Donskoi Marina, Kenna Tony J, Thomas Gethin P, Clark Graeme R, Duncan Emma L, Brown Matthew A

Abstract excerpt

Recent advances in DNA sequencing have enabled mapping of genes for monogenic traits in families with small pedigrees and even in unrelated cases. We report the identification of disease-causing mutations in a rare, severe, skeletal dysplasia, studying a family of two healthy unrelated parents an...

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Source

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Identifiers

PMID: 21455487
DOI: 10.1371/journal.pgen.1002027
PMCID: PMC3063761

Genes

POP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21455487-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia.PMID 21455487Read ↗

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