De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
-
Published:2020-11
Issue:11
Volume:22
Page:1838-1850
-
ISSN:1098-3600
-
Container-title:Genetics in Medicine
-
language:en
-
Short-container-title:Genetics in Medicine
Author:
Cappuccio Gerarda, Sayou Camille, Tanno Pauline Le, Tisserant Emilie, Bruel Ange-Line, Kennani Sara El, Sá Joaquim, Low Karen J., Dias Cristina, Havlovicová Markéta, Hančárová Miroslava, Eichler Evan E., Devillard Françoise, Moutton Sébastien, Van-Gils Julien, Dubourg Christèle, Odent Sylvie, Gerard Bénédicte, Piton Amélie, Yamamoto Toshiyuki, Okamoto Nobuhiko, Firth Helen, Metcalfe Kay, Moh Anna, Chapman Kimberly A., Aref-Eshghi Erfan, Kerkhof Jennifer, Torella Annalaura, Nigro Vincenzo, Perrin Laurence, Piard Juliette, Le Guyader Gwenaël, Jouan Thibaud, Thauvin-Robinet Christel, Duffourd Yannis, George-Abraham Jaya K., Buchanan Catherine A., Williams Denise, Kini Usha, Wilson Kate, Nigro Vincenzo, Brunetti-Pierri Nicola, Casari Giorgio, Cappuccio Gerarda, Torella Annalaura, Pinelli Michele, Musacchia Francesco, Mutarelli Margherita, Carrella Diego, Vitiello Giuseppina, Capra Valeria, Parenti Giancarlo, Leuzzi Vincenzo, Selicorni Angelo, Maitz Silvia, Banfi Sandro, Zollino Marcella, Montomoli Mario, Milani Donatelli, Romano Corrado, Tummolo Albina, De Brasi Daniele, Coppola Antonietta, Santoro Claudia, Peron Angela, Pantaleoni Chiara, Castello Raffaele, D’Arrigo Stefano, Sousa Sérgio B., Hennekam Raoul C.M., Sadikovic Bekim, Thevenon Julien, Govin Jérôme, Vitobello Antonio, Brunetti-Pierri NicolaORCID
Funder
Fondazione Telethon Wellcome Trust
Subject
Genetics (clinical)
Cited by
36 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
|
|