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Is maternal duplication of 11p15 associated with Silver-Russell syndrome?

Background: Silver-Russell syndrome (SRS) is a heterogeneous malformation syndrome characterised by intrauterine and postnatal growth retardation (IUGR, PGR) and dysmorphisms. The basic causes are unknown, however in approximately 10% of patients a maternal uniparental disomy (UPD) of chromosome 7 o...

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Autors principals: Eggermann, T, Meyer, E, Obermann, C, Heil, I, Schuler, H, Ranke, M, Eggermann, K, Wollmann, H
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2005
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1736048/
https://ncbi.nlm.nih.gov/pubmed/15863658
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.028936
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