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Article

LOT1 (ZAC1/PLAGL1) as member of an imprinted gene network does not harbor Silver-Russell specific variants.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jun 2009

Jäger Susanne, Schönherr Nadine, Spengler Sabrina, Ranke Michael B, Wollmann Hartmut A, Binder Gerhard, Eggermann Thomas

Abstract excerpt

Silver-Russell syndrome (SRS) is a heterogeneous disease associated with intrauterine and postnatal growth retardation (IUGR/PNGR), asymmetry and craniofacial dysmorphisms. In 7-10% of patients with SRS, maternal uniparental disomy of chromosome 7 can be detected; more than 38% carry hypomethylation of the imprinting region 1 in 11p15. These chromosomes harbor the imprinted genes IGF2, H19, LIT1 and MEST. In...

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Share to Chromosomes, Human, Pair 11
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19694203
DOI: 10.1515/jpem.2009.22.6.555

Genes

PLAGL1
IGF2
MEST

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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