Epigenotype–phenotype correlations in Silver–Russell syndrome

BACKGROUND: Silver–Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face and asymmetry. Maternal uniparental disomy (mUPD) of chromosome 7 and hypomethylation of the imprinting control region (ICR) 1 on chromosome 11...

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Autores principales: Wakeling, E L, Amero, S Abu, Alders, M, Bliek, J, Forsythe, E, Kumar, S, Lim, D H, MacDonald, F, Mackay, D J, Maher, E R, Moore, G E, Poole, R L, Price, S M, Tangeraas, T, Turner, C L S, Van Haelst, M M, Willoughby, C, Temple, I K, Cobben, J M
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Group 2010
Materias:
Original Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2976034/
https://ncbi.nlm.nih.gov/pubmed/20685669
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2010.079111
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