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Clinical Characterization and Identification of Duplication Breakpoints in a Japanese Family with Xq28 Duplication Syndrome Including MECP2.

Daisuke Fukushi,Kenichiro Yamada,Noriko Nomura,Misako Naiki,Reiko Kimura,Yasukazu Yamada,Toshiyuki Kumagai,Kumiko Yamaguchi,Yoshishige Miyake,Nobuaki Wakamatsu

American Journal of Medical Genetics Part A（2014）

Cited 13|Views10
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Key words
Xq28 duplication,MECP2,intellectual disability,fork-stalling and template-switching,break-induced replication,small feet
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