IGF-II Serum Levels Are Normal in Children with Silver-Russell Syndrome Who Frequently Carry Epimutations at theIGF2Locus | Zendy

Gerhard Binder | Zendy; Ann-Kathrin Seidel | Zendy; Karin Weber | Zendy; Martin Haase | Zendy; H Wollmann | Zendy; Michael B. Ranke | Zendy; Thomas Eggermann | Zendy

Open Access

IGF-II Serum Levels Are Normal in Children with Silver-Russell Syndrome Who Frequently Carry Epimutations at theIGF2Locus

Author(s) -

Gerhard Binder,

Ann-Kathrin Seidel,

Karin Weber,

Martin Haase,

H Wollmann,

Michael B. Ranke,

Thomas Eggermann

Publication year - 2006

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2006-1127

Subject(s) - locus (genetics) , endocrinology , context (archaeology) , medicine , genomic imprinting , dna methylation , epigenetics , allele , biology , genetics , gene , gene expression , paleontology

Epigenetic mutations of 11p15 encompassing IGF2 are present in short children with Silver-Russell syndrome (SRS) with high frequency (31-50%). It has been speculated that these mutations characterized by demethylation of ICR1 cause diminished IGF2 expression.

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