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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...

Topics

Abnormalities, Multiple
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 7
Craniofacial Abnormalities
DNA Methylation
Female
Fetal Growth Retardation
Humans
Infant, Newborn
Male
Models, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Pregnancy

Syndrome

Uniparental Disomy

Source

Identifiers

PMID: 18156438
DOI: 10.1136/jmg.2007.053017

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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