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Article

Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.

The Journal of clinical endocrinology and metabolism - 1 Jun 2012

Perez-Nanclares Gustavo, Romanelli Valeria, Mayo Sonia, Garin Intza, Zazo Seco Celia, Fernandez-Rebollo Eduardo, Martínez Francisco, Lapunzina Pablo, de Nanclares Guiomar Pérez

Abstract excerpt

CONTEXT: Genomic imprinting is the modification of the genome so that genes from only one (rather than two) of the parental alleles are expressed. The mechanism underlying imprinting is epigenetic, occurring via changes in DNA methylation and histone modifications rather than through alterations in the DNA sequence. To date, nine different imprinting disorders have been clinically and genetically identified and a...

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Share to Chromogranins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to GTP-Binding Protein alpha Subunits, Gs

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Source

Identifiers

PMID: 22492776
DOI: 10.1210/jc.2012-1081

Genes

GNAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.PMID 22492776Read ↗

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