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Article

ICR1 epimutations in llp15 are restricted to patients with Silver-Russell syndrome features.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2008

Eggermann Thomas, Meyer Esther, Caglayan A Okay, Dundar Munis, Schönherr N

Abstract excerpt

(Epi)mutations affecting chromosome llp15 are well known to be associated with growth disturbances. The finding of llp15 mutations in the overgrowth disease Beckwith-Wiedemann syndrome led to the identification of imprinted growth-promoting genes which are expressed paternally and of imprinted growth-suppressing genes in the same region that are expressed maternally. An opposite epimutation in the same region is...

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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: 18404973
DOI: 10.1515/jpem.2008.21.1.59

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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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ICR1 epimutations in llp15 are restricted to patients with Silver-Russell syndrome features.PMID 18404973Read ↗

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