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Article

Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.

American journal of human genetics - 1 Aug 2000

Yoshihashi H, Maeyama K, Kosaki R, Ogata T, Tsukahara M, Goto Y, Hata J, Matsuo N, Smith R J, Kosaki K

Abstract excerpt

Documentation of maternal uniparental disomy of chromosome 7 in 10% of patients with Russell-Silver syndrome (RSS), characterized by prenatal and postnatal growth retardation and dysmorphic features, has suggested the presence of an imprinted gene on chromosome 7 whose mutation is responsible for the RSS phenotype. Human GRB10 on chromosome 7, a homologue of the mouse imprinted gene Grb10, is a candidate, because...

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Identifiers

PMID: 10856193
DOI: 10.1086/302997
PMCID: PMC1287191

Genes

GRB10

Variants

Provenance

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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Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.PMID 10856193Read ↗

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The genetic aetiology of Silver-Russell syndrome.Semantic proximity Read ↗

Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues.Semantic proximity Read ↗

DDC and COBL, flanking the imprinted GRB10 gene on 7p12, are biallelically expressed.Semantic proximity Read ↗

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