Epigenetic mutations in 11p15 in Silver‐Russell syndrome are restricted to the telomeric imprinting domain

INTRODUCTION: Silver‐Russell syndrome (SRS; also know as Russell‐Silver syndrome) is a heterogeneous syndrome which is characterised by severe intrauterine and postnatal growth retardation and typical dysmorphic features. Recently, the first SRS patients with (epi)genetic mutations in 11p15 affectin...

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Detalhes bibliográficos
Main Authors: Eggermann, T, Schönherr, N, Meyer, E, Obermann, C, Mavany, M, Eggermann, K, Ranke, M B, Wollmann, H A
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2006
Assuntos:
Letter to JMG
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564559/
https://ncbi.nlm.nih.gov/pubmed/16236811
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.038687
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