Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
ANKRD17 杂合子功能缺失变异会导致一种综合征，其特征为智力障碍、语言发育迟缓和畸形。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2021.04.007
Chopra, Maya; McEntagart, Meriel; Clayton-Smith, Jill; Platzer, Konrad; Shukla, Anju; Girisha, Katta M; Kaur, Anupriya; Kaur, Parneet; Pfundt, Rolph; Veenstra-Knol, Hermine; Mancini, Grazia M S; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Kortüm, Fanny; Hempel, Maja; Denecke, Jonas; Lehman, Anna; Kleefstra, Tjitske; Stuurman, Kyra E; Wilke, Martina; Thompson, Michelle L; Bebin, E Martina; Bijlsma, Emilia K; Hoffer, Mariette J V; Peeters-Scholte, Cacha; Slavotinek, Anne; Weiss, William A; Yip, Tiffany; Hodoglugil, Ugur; Whittle, Amy; diMonda, Janette; Neira, Juanita; Yang, Sandra; Kirby, Amelia; Pinz, Hailey; Lechner, Rosan; Sleutels, Frank; Helbig, Ingo; McKeown, Sarah; Helbig, Katherine; Willaert, Rebecca; Juusola, Jane; Semotok, Jennifer; Hadonou, Medard; Short, John; Yachelevich, Naomi; Lala, Sajel; Fernández-Jaen, Alberto; Pelayo, Janvier Porta; Klöckner, Chiara; Kamphausen, Susanne B; Abou Jamra, Rami; Arelin, Maria; Innes, A Micheil; Niskakoski, Anni; Amin, Sam; Williams, Maggie; Evans, Julie; Smithson, Sarah; Smedley, Damian; de Burca, Anna; Kini, Usha; Delatycki, Martin B; Gallacher, Lyndon; Yeung, Alison; Pais, Lynn; Field, Michael; Martin, Ellenore; Charles, Perrine; Courtin, Thomas; Keren, Boris; Iascone, Maria; Cereda, Anna; Poke, Gemma; Abadie, Véronique; Chalouhi, Christel; Parthasarathy, Padmini; Halliday, Benjamin J; Robertson, Stephen P; Lyonnet, Stanislas; Amiel, Jeanne; Gordon, Christopher T
