Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes

BACKGROUND: Silver-Russell syndrome (SRS) is a growth retardation disorder with a very broad molecular and clinical spectrum. Whereas the association of SRS with imprinting disturbances of chromosomes 11p15.5 and 7 is generally accepted, there are controversial discussions on the involvement of othe...

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Published in:BMC Med Genet
Main Authors: Sachwitz, Jana, Strobl-Wildemann, Getrud, Fekete, György, Ambrozaitytė, Laima, Kučinskas, Vaidutis, Soellner, Lukas, Begemann, Matthias, Eggermann, Thomas
Format: Artigo
Language:Inglês
Published: BioMed Central 2016
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4787016/
https://ncbi.nlm.nih.gov/pubmed/26969265
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0280-8
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