학술논문
SOX11variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotrophic 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.; 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; Tsurasaki, Yoshinori; Nobuhiko, Okamoto; Sekiguchi, Futoshi; Tsuchida, Naomi; Matsumoto, Naomichi; Kou, Ikuyo; Yonezawa, Yoshiro; Ikegawa, Shiro; Callewaert, Bert; Freeth, Megan; Kleinendorst, Lotte; Donaldson, Alan; Alders, Marielle; De Paepe, Anna; Sadikovic, Bekim; McNeill, Alisdair
Source
Genetics in Medicine; 20220101, Issue: Preprints
Subject
Language
ISSN
10983600; 15300366
Abstract
To undertake a multidisciplinary characterisation of the phenotype associated with SOX11variants.