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Article

Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.

BMC medical genetics - 11 Mar 2016

Sachwitz Jana, Strobl-Wildemann Getrud, Fekete György, Ambrozaitytė Laima, Kučinskas Vaidutis, Soellner Lukas, Begemann Matthias, Eggermann Thomas

Abstract excerpt

BACKGROUND: Silver-Russell syndrome (SRS) is a growth retardation disorder with a very broad molecular and clinical spectrum. Whereas the association of SRS with imprinting disturbances of chromosomes 11p15.5 and 7 is generally accepted, there are controversial discussions on the involvement of other molecular changes. The recent reports on the occurrence of maternal uniparental disomies of chromosomes 6, 16 and...

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Identifiers

PMID: 26969265
DOI: 10.1186/s12881-016-0280-8
PMCID: PMC4787016

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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