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Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith–Wiedemann syndrome and Silver–Russell syndrome

✍ Scribed by Lee, Beom Hee; Kim, Gu-Hwan; Oh, Tae Jeong; Kim, Joo Hyun; Lee, Jin-Joo; Choi, Seung Hoon; Lee, Joo Yeon; Kim, Jae-Min; Choi, In Hee; Kim, Yoo-Mi; Choi, Jin-Ho; Yoo, Han-Wook


Book ID
121000300
Publisher
Nature Publishing Group
Year
2013
Tongue
English
Weight
412 KB
Volume
58
Category
Article
ISSN
1435-232X

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Many human syndromes involve a loss of imprinting (LOI) due to a loss (LOM) or a gain of DNA methylation (GOM). Most LOI occur as mosaics and can therefore be difficult to detect with conventional methods. The human imprinted 11p15 region is crucial for the control of fetal growth, and LOI at this l