Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver–Russell Syndrome-compatible phenotype

Maternal uniparental disomy 14 (UPD(14)mat) and related (epi)genetic aberrations affecting the 14q32.2 imprinted region result in a clinically recognizable condition which is recently referred to as Temple Syndrome (TS). Phenotypic features in TS include pre- and post-natal growth failure, prominent...

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Détails bibliographiques
Publié dans:Eur J Hum Genet
Auteurs principaux: Kagami, Masayo, Mizuno, Seiji, Matsubara, Keiko, Nakabayashi, Kazuhiko, Sano, Shinichiro, Fuke, Tomoko, Fukami, Maki, Ogata, Tsutomu
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2015
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795120/
https://ncbi.nlm.nih.gov/pubmed/25351781
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.234
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