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Article

Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1.

European journal of human genetics : EJHG - 1 Aug 2022

Chopra Maya, Caswell Richard, Barcia Giulia, Rondeau Sophie, Jonard Laurence, Nitchké Patrick, Amram Daniel, Bellaiche Marc-Lionel, Abadie Veronique, Parodi Marine, Denoyelle Francoise, Hattersley Andrew, Bole Christine, Lyonnet Stanislas, Marlin Sandrine

Abstract excerpt

DNA polymerase δ is one of the three main enzymes responsible for DNA replication. POLD1 heterozygous missense variants in the exonuclease domain result in a cancer predisposition phenotype. In contrast, heterozygous variants in POLD1 polymerase domain have more recently been shown to be the underlying basis of the distinct autosomal dominant multisystem lipodystrophy disorder, MDPL (mandibular hypoplasia,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35590056
DOI: 10.1038/s41431-022-01118-6
PMCID: PMC9349287

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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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