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Article

The genetic aetiology of Silver-Russell syndrome.

Journal of medical genetics - 1 Apr 2008

Abu-Amero S, Monk D, Frost J, Preece M, Stanier P, Moore G E

Abstract excerpt

Silver-Russell syndrome (SRS MIM180860) is a disorder characterised by intrauterine and/or postnatal growth restriction and typical facies. However, the clinical picture is extremely diverse due to numerous diagnostic features reflecting a heterogeneous genetic disorder. The mode of inheritance is variable with sporadic cases also being described. Maternal uniparental disomy (mUPD) of chromosome 7 accounts for...

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Source

Identifiers

PMID: 18156438
DOI: 10.1136/jmg.2007.053017

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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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