Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype

Paternal uniparental disomy 14 (UPD(14)pat) results in a unique constellation of clinical features, and a similar phenotypic constellation is also caused by microdeletions involving the DLK1-MEG3 intergenic differentially methylated region (IG-DMR) and/or the MEG3-DMR and by epimutations (hypermethy...

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Main Authors: Kagami, Masayo, Kato, Fumiko, Matsubara, Keiko, Sato, Tomoko, Nishimura, Gen, Ogata, Tsutomu
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2012
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3421115/
https://ncbi.nlm.nih.gov/pubmed/22353941
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.26
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