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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Detaylı Bibliyografya
Yayımlandı:BMC Med Genet
Asıl Yazarlar: Sachwitz, Jana, Strobl-Wildemann, Getrud, Fekete, György, Ambrozaitytė, Laima, Kučinskas, Vaidutis, Soellner, Lukas, Begemann, Matthias, Eggermann, Thomas
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2016
Konular:
Research Article
Online Erişim: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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