Article
Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2017
Kagami Masayo, Matsubara Keiko, Nakabayashi Kazuhiko, Nakamura Akie, Sano Shinichiro, Okamura Kohji, Hata Kenichiro, Fukami Maki, Ogata Tsutomu
Abstract excerpt
PURPOSE: Recent studies have identified multilocus imprinting disturbances (MLIDs) in a subset of patients with imprinting diseases (IDs) caused by epimutations. We examined MLIDs in patients with Temple syndrome (TS14) and Kagami-Ogata syndrome (KOS14). METHODS: We studied four TS14 patients (patients 1-4) and five KOS14 patients (patients 5-9) with epimutations. We performed HumanMethylation450 BeadChip...
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