Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing
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Author / Creator
Iwama, Kazuhiro , Mizuguchi, Takeshi , Takeshita, Eri , Nakagawa, Eiji , Okazaki, Tetsuya , Nomura, Yoshiko , Iijima, Yoshitaka , Kajiura, Ichiro , Sugai, Kenji , Saito, Takashi , Sasaki, Masayuki , Yuge, Kotaro , Saikusa, Tomoko , Okamoto, Nobuhiko , Takahashi, Satoru , Amamoto, Masano , Tomita, Ichiro , Kumada, Satoko , Anzai, Yuki , Hoshino, Kyoko , Fattal-Valevski, Aviva , Shiroma, Naohide , Ohfu, Masaharu , Moroto, Masaharu , Tanda, Koichi , Nakagawa, Tomoko , Sakakibara, Takafumi , Nabatame, Shin , Matsuo, Muneaki , Yamamoto, Akiko , Yukishita, Shoko , Inoue, Ken , Waga, Chikako , Nakamura, Yoko , Watanabe, Shoko , Ohba, Chihiro , Sengoku, Toru , Fujita, Atsushi , Mitsuhashi, Satomi , Miyatake, Satoko , Takata, Atsushi , Miyake, Noriko , Ogata, Kazuhiro , Ito, Shuichi , Saitsu, Hirotomo , Matsuishi, Toyojiro , Goto, Yu-ichi and Matsumoto, Naomichi
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
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Publication information
Publisher
England: BMJ Publishing Group Ltd
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More information
Scope and Contents
Contents
BackgroundRett syndrome (RTT) is a characteristic neurological disease presenting with regressive loss of neurodevelopmental milestones. Typical RTT is generally caused by abnormality of methyl-CpG binding protein 2 (MECP2). Our objective to investigate the genetic landscape of MECP2-negative typical/atypical RTT and RTT-like phenotypes using whole...
Alternative Titles
Full title
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing
Authors, Artists and Contributors
Author / Creator
Mizuguchi, Takeshi
Takeshita, Eri
Nakagawa, Eiji
Okazaki, Tetsuya
Nomura, Yoshiko
Iijima, Yoshitaka
Kajiura, Ichiro
Sugai, Kenji
Saito, Takashi
Sasaki, Masayuki
Yuge, Kotaro
Saikusa, Tomoko
Okamoto, Nobuhiko
Takahashi, Satoru
Amamoto, Masano
Tomita, Ichiro
Kumada, Satoko
Anzai, Yuki
Hoshino, Kyoko
Fattal-Valevski, Aviva
Shiroma, Naohide
Ohfu, Masaharu
Moroto, Masaharu
Tanda, Koichi
Nakagawa, Tomoko
Sakakibara, Takafumi
Nabatame, Shin
Matsuo, Muneaki
Yamamoto, Akiko
Yukishita, Shoko
Inoue, Ken
Waga, Chikako
Nakamura, Yoko
Watanabe, Shoko
Ohba, Chihiro
Sengoku, Toru
Fujita, Atsushi
Mitsuhashi, Satomi
Miyatake, Satoko
Takata, Atsushi
Miyake, Noriko
Ogata, Kazuhiro
Ito, Shuichi
Saitsu, Hirotomo
Matsuishi, Toyojiro
Goto, Yu-ichi
Matsumoto, Naomichi
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2188982198
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2188982198
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2018-105775
