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

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...

Full description

Bibliographic Details
Main Authors: Kagami, Masayo, Mizuno, Seiji, Matsubara, Keiko, Nakabayashi, Kazuhiko, Sano, Shinichiro, Fuke, Tomoko, Fukami, Maki, Ogata, Tsutomu
Format: Online
Language:English
Published: Nature Publishing Group 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795120/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795120/

Similar Items