YAMAMOTO Toshiyuki    Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine    Position   Professor
Article types	Original article
Language	English
Peer review	Peer reviewed
Title	De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Journal	Formal name：Genetics in Medicine Abbreviation：Genet Med ISSN code：1530-0366
Domestic / Foregin	Foregin
Volume, Issue, Page	22(11),pp.1838-1850
Author and coauthor	Cappuccio C, Sayou C, Tanno PL, Tisserant E, Bruel AL, Kennani SE, Sá J, Low KJ, Dias C, Havlovicová M, Hančárová M, Eichler EE, Devillard F, Moutton S, MD, Van-Gils J, Dubourg C, Odent S, Piton A, Yamamoto T, Okamoto N, Firth H, Metcalfe K, Moh A, Kimberly A. Chapman, Aref-Eshghi E, Kerkhof J, Torella A, Nigro V, Perrin L, Piard J, Le Guyader G, Jouan T, Thauvin-Robinet C, Duffourd Y, George-Abraham JK, Buchanan CA, Williams D, Kini U, Wilson K, Telethon Undiagnosed Diseases Program, The DDD study, Sousa SB, Hennekam RCM, Sadikovic B, Thevenon J, Govin J, Vitobello A, Brunetti-Pierri N
Publication date	2020/11
DOI	doi: 10.1038/s41436-020-0898-y