Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures.

doi:10.1159/000192433

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Article

Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures.

Hormone research - 1 Apr 2009

Eggermann Thomas

Abstract excerpt

Progress in the identification of the (epi)genetic basis of imprinting disorders has provided greater insight into the central role of imprinted genes in regular human growth. In addition to the well-known Prader-Willi, Angelman, and Beckwith-Wiedemann syndromes, imprinting disturbances have recently been identified in transient neonatal diabetes mellitus, uniparental disomy (14) syndromes and Silver- Russell...

Topics

Beckwith-Wiedemann Syndrome
Chromosomes, Human, Pair 11
DNA Methylation
Genomic Imprinting
Growth Disorders
Humans
Mutation

Source

Open in PubMed

Identifiers

PMID: 19407494
DOI: 10.1159/000192433

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