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Article

A familial disorder of altered DNA-methylation.

Journal of medical genetics - 1 Jun 2014

Caliebe Almuth, Richter Julia, Ammerpohl Ole, Kanber Deniz, Beygo Jasmin, Bens Susanne, Haake Andrea, Jüttner Eva, Korn Bernhard, Mackay Deborah J G, Martin-Subero José I, Nagel Inga, Sebire Neil J, Seidmann Larissa, Vater Inga, von Kaisenberg Constantin Sylvius, Temple I Karen, Horsthemke Bernhard, Buiting Karin, Siebert Reiner

Abstract excerpt

BACKGROUND: In a subset of imprinting disorders caused by epimutations, multiple imprinted loci are affected. Familial occurrence of multilocus imprinting disorders is rare. PURPOSE/OBJECTIVE: We have investigated the clinical and molecular features of a familial DNA-methylation disorder. METHODS: Tissues of affected individuals and blood samples of family members were investigated by conventional and molecular...

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Source

Identifiers

PMID: 24721835
DOI: 10.1136/jmedgenet-2013-102149

Genes

NLRP2
NLRP7
ZFP57

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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