학술논문
SOX11variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
Document Type
Article
Author
Al-Jawahiri, Reem; Foroutan, Aidin; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael; Haghshenas, Sadegheh; Rooney, Kathleen; Turner, Jasmin; Shears, Debbie; Holder, Muriel; Lefroy, Henrietta; Castle, Bruce; Reis, Linda M.; Semina, Elena V.; Nickerson, Deborah; Bamshad, Michael; Leal, Suzanne; Lachlan, Katherine; Chandler, Kate; Wright, Thomas; Clayton-Smith, Jill; Hug, Franziska Phan; Pitteloud, Nelly; Bartoloni, Lucia; Hoffjan, Sabine; Park, Soo-Mi; Thankamony, Ajay; Lees, Melissa; Wakeling, Emma; Naik, Swati; Hanker, Britta; Girisha, Katta M.; Agolini, Emanuele; Giuseppe, Zampino; Alban, Ziegler; Tessarech, Marine; Keren, Boris; Afenjar, Alexandra; Zweier, Christiane; Reis, Andre; Smol, Thomas; Tsurusaki, Yoshinori; Nobuhiko, Okamoto; Sekiguchi, Futoshi; Tsuchida, Naomi; Matsumoto, Naomichi; Kou, Ikuyo; Yonezawa, Yoshiro; Ikegawa, Shiro; Callewaert, Bert; Freeth, Megan; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Caulfield, Mark J.; Chan, Georgia C.; Elgar, Greg; Fowler, Tom; Giess, Adam; Hamblin, Angela; Henderson, Shirley; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; FionaMaleady-Crowe; McEntagart, Meriel; Minneci, Federico; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O’Donovan, Peter; Odhams, Chris A.; Patch, Christine; Pereira, Mariana Buongermino; Perez-Gil, Daniel; Pullinger, John; TahrimaRahim; Rendon, Augusto; TimRogers; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thomas, Ellen R.A.; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Kleinendorst, Lotte; Donaldson, Alan; Alders, Marielle; De Paepe, Anne; Sadikovic, Bekim; McNeill, Alisdair
Source
Genetics in Medicine; June 2022, Vol. 24 Issue: 6 p1261-1273, 13p
Subject
Language
ISSN
10983600; 15300366
Abstract
This study aimed to undertake a multidisciplinary characterization of the phenotype associated with SOX11variants.