A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome

The Prader–Willi syndrome (PWS) is caused by a 5–6 Mbp de novo deletion on the paternal chromosome 15, maternal uniparental disomy 15 or an imprinting defect. All three lesions lead to the lack of expression of imprinted genes that are active on the paternal chromosome only: MKRN3, MAGEL2, NDN, C15o...

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Main Authors: Kanber, Deniz, Giltay, Jacques, Wieczorek, Dagmar, Zogel, Corinna, Hochstenbach, Ron, Caliebe, Almuth, Kuechler, Alma, Horsthemke, Bernhard, Buiting, Karin
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2009
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986273/
https://ncbi.nlm.nih.gov/pubmed/19066619
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.232
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