Article
Japanese and North American/European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations.
European journal of human genetics : EJHG - 1 Dec 2007
Sasaki Kensaku, Soejima Hidenobu, Higashimoto Ken, Yatsuki Hitomi, Ohashi Hirofumi, Yakabe Shinya, Joh Keiichiro, Niikawa Norio, Mukai Tsunehiro
Abstract excerpt
Beckwith-Wiedemann syndrome (BWS) is an imprinting-related human disease. The frequencies of causative alterations such as loss of methylation (LOM) of KvDMR1, hypermethylation of H19-DMR, paternal uniparental disomy, CDKN1C gene mutation, and chromosome abnormality have been described for North American and European patients, but the corresponding frequencies in Japanese patients have not been measured to date....
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