Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.

Kazuhiro IwamaTakeshi MizuguchiEri TakeshitaEiji NakagawaTetsuya OkazakiYoshiko NomuraYoshitaka IijimaIchiro KajiuraKenji SugaiTakashi SaitoMasayuki SasakiKotaro YugeTomoko SaikusaNobuhiko OkamotoSatoru TakahashiMasano AmamotoIchiro TomitaSatoko KumadaYuki AnzaiKyoko HoshinoAviva Fattal-ValevskiNaohide ShiromaMasaharu OhfuMasaharu MorotoKoichi TandaTomoko NakagawaTakafumi SakakibaraShin NabatameMuneaki MatsuoAkiko YamamotoShoko YukishitaKen InoueChikako WagaYoko NakamuraShoko WatanabeChihiro OhbaToru SengokuAtsushi FujitaSatomi MitsuhashiSatoko MiyatakeAtsushi TakataNoriko MiyakeKazuhiro OgataShuichi ItoHirotomo SaitsuToyojiro MatsuishiYu-Ichi GotoNaomichi Matsumoto

Published in: Journal of medical genetics (2019)

Our study provides a new landscape including additional genetic variants contributing to RTT-like phenotypes, highlighting the importance of comprehensive genetic analysis.

Keyphrases

single cell
case report
copy number