Heterozygous ANKRD17 loss of function variants cause a syndrome with intellectual disability, speech delay and dysmorphism

Autor: Damien Smedley, Hailey Pinz, Chiara Kloechner, Grazia M.S. Mancini, Anna de Burca, Christopher T. Gordon, Emilia K. Bijlsma, Rebecca Wilaert, Jonas Denecke, Ingo Helbig, Nicola Brunetti-Pierri, Martina Wilke, Katta M. Girisha, Parmeet Kaur, Jeanne Amiel, Janette diMonda, Rolph Pfundt, Maya Chopra, Maria Arelin, Julie Evans, Hermine E. Veenstra-Knol, Micheil Innes, Kyra E. Stuurman, Janvier Porta Pelayo, Ugur Hodoglugil, Meriel McEntagart, Rosan Lechner, Anupriya Kaur, Sam Amin, Sarah E McKeown, Maja Hempel, Tjitske Kleefstra, Michelle L. Thompson, Tiffany Yip, Maggie Williams, Amelia Kirby, Jane Juusola, Anna Lehman, Gerarda Capuccio, Frank Sleutels, Rami Abou Jamra, Konrad Platzer, William A. Weiss, Martina Bebin, Jennifer Semotok, Stanislas Lyonnet, Naomi Yachelevich, Anni Niskakoski, Juanita Neira, Anne Slavotinek, Cacha Peters-Scholte, Usha Kini, Medard Hadonou, Mariëtte J.V. Hoffer, Anju Shukla, Sajel Lala, John Short, Susanne B. Kamphausen, Katherine L. Helbig, Sarah F. Smithson, Fanny Kortüm, Sandra Yang, Jill Clayton-Smith, Amy Whittle, Alberto Fernández-Jaen

Publikováno v: Molecular Genetics and Metabolism. 132:S99

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fb68c45eeb0a5d839c708a94525f2105
https://doi.org/10.1016/s1096-7192(21)00233-x