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Article

Maternal uniparental disomy 7 and Silver-Russell syndrome - clinical update and comparison with other subgroups.

European journal of medical genetics - 1 Jan 2000

Kotzot Dieter

Abstract excerpt

Maternal uniparental disomy (UPD) 7 is found in approximately 5% of patients with Silver-Russell syndrome. By a descriptive and comparative clinical analysis of all published cases (more than 60 to date) their phenotype is updated and compared with the clinical findings in patients with Sliver-Russell syndrome (SRS) of either unexplained etiology or epimutations of the imprinting center region 1 (ICR1) on 11p15....

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Identifiers

PMID: 18655849
DOI: 10.1016/j.ejmg.2008.06.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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