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Article

Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver-Russell syndrome.

American journal of medical genetics. Part A - 1 Oct 2010

Lin Shin-Yu, Lee Chien-Nan, Hung Chia-Cheng, Tsai Wen-Yu, Lin Shuan-Pei, Li Ni-Chung, Hsieh Wu-Shiun, Tung Yi-Ching, Niu Dau-Ming, Hsu Wen-Ming, Chen Lang-Yao, Fang Mei-Ya, Tu Mei-Pin, Kuo Pei-Wen, Lin Chiou-Ya, Su Yi-Ning, Ho Hong-Nerng

Abstract excerpt

Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous congenital disorder characterized by severe growth retardation. Hypomethylation of the differentially methylated region (DMR) of the H19 gene and uniparental disomy of maternal chromosome 7 is present in ∼45% of the patients with SRS so more than half of these patients have no known genetic etiology. We combined several molecular...

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Identifiers

PMID: 20830799
DOI: 10.1002/ajmg.a.33629

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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