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Article

Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome.

American journal of medical genetics. Part A - 1 Jun 2014

Fokstuen Siv, Kotzot Dieter

Abstract excerpt

Silver-Russell syndrome (SRS) is characterized by pre- and postnatal growth retardation, relative macrocephaly, asymmetry, and a triangular facial gestalt. In 5-10% of the patients the phenotype is caused by maternal UPD 7, and 38-64% of the patients present with hypomethylation at the imprinting center region 1 (ICR1) on 11p15.5. The etiology of the remaining cases is so far not known and various...

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Identifiers

PMID: 24664587
DOI: 10.1002/ajmg.a.36464

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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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