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Article

The endocrine phenotype in silver-russell syndrome is defined by the underlying epigenetic alteration.

The Journal of clinical endocrinology and metabolism - 1 Apr 2008

Binder Gerhard, Seidel Ann-Kathrin, Martin David D, Schweizer Roland, Schwarze C Philipp, Wollmann Hartmut A, Eggermann Thomas, Ranke Michael B

Abstract excerpt

CONTEXT: Around 50% of children with Silver-Russell syndrome (SRS) carry a hypomethylation of the imprinting control region 1 at the IGF2/H19 locus on 11p15, the functional significance of which is unknown. OBJECTIVE: We aimed to compare the genotype in SRS with the endocrine phenotype. DESIGN: The retrospective study included all SRS children who were treated during the last 18 yr at our hospital and for...

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Source

Identifiers

PMID: 18230663
DOI: 10.1210/jc.2007-1897

Genes

SDS
IGF2

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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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The endocrine phenotype in silver-russell syndrome is defined by the underlying epigenetic alteration.PMID 18230663Read ↗

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Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.Semantic proximity Read ↗

11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.Semantic proximity Read ↗

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Long-Term Results of GH Treatment in Silver-Russell Syndrome (SRS): Do They Benefit the Same as Non-SRS Short-SGA?Semantic proximity Read ↗

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