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Article

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype.

European journal of human genetics : EJHG - 1 Aug 2015

Kagami Masayo, Mizuno Seiji, Matsubara Keiko, Nakabayashi Kazuhiko, Sano Shinichiro, Fuke Tomoko, Fukami Maki, Ogata Tsutomu

Abstract excerpt

Maternal uniparental disomy 14 (UPD(14)mat) and related (epi)genetic aberrations affecting the 14q32.2 imprinted region result in a clinically recognizable condition which is recently referred to as Temple Syndrome (TS). Phenotypic features in TS include pre- and post-natal growth failure, prominent forehead, and feeding difficulties that are also found in Silver-Russell Syndrome (SRS). Thus, we examined the...

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Share to Calcium-Binding Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

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Share to Intercellular Signaling Peptides and Proteins

Share to RNA, Long Noncoding

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Source

Open in PubMed Open full text

Identifiers

PMID: 25351781
DOI: 10.1038/ejhg.2014.234
PMCID: PMC4795120

Genes

DLK1

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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