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Article

MBD3 mutations are not responsible for ICR1 hypomethylation in Silver-Russell syndrome.

European journal of medical genetics - 1 Jan 2000

Bachmann Nadine, Spengler Sabrina, Binder Gerhard, Eggermann Thomas

Abstract excerpt

Silver-Russell syndrome (SRS) is a sporadic and heterogeneous disease that is mainly associated with intrauterine and postnatal growth retardation. The most frequent known aberration in SRS patients is a hypomethylation of the imprinting control region 1 (ICR1) in 11p15 ( approximately 38%). Up t...

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Share to Chromosomes, Human, Pair 11
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20004753
DOI: 10.1016/j.ejmg.2009.12.002

Genes

MBD3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20004753-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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MBD3 mutations are not responsible for ICR1 hypomethylation in Silver-Russell syndrome.PMID 20004753Read ↗

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