Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
Titel:
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
Auteur:
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.