Article
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood.
Journal of medical genetics - 1 Oct 2020
Lokulo-Sodipe Oluwakemi, Ballard Lisa, Child Jenny, Inskip Hazel M, Byrne Christopher D, Ishida Miho, Moore Gudrun E, Wakeling Emma L, Fenwick Angela, Mackay Deborah J G, Davies Justin Huw, Temple I Karen
Abstract excerpt
BACKGROUND: Silver-Russell syndrome is an imprinting disorder that restricts growth, resulting in short adult stature that may be ameliorated by treatment. Approximately 50% of patients have loss of methylation of the imprinting control region (H19/IGF2:IG-DMR) on 11p15.5 and 5%-10% have maternal uniparental disomy of chromosome 7. Most published research focuses on the childhood phenotype. Our aim was to...
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