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

Maya Chopra, Meriel McEntagart, Jill Clayton‐Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha, Anupriya Kaur, Parneet Kaur, Rolph Pfundt, Hermine E. Veenstra‐Knol, Grazia M.S. Mancini, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Fanny Kortüm, Maja Hempel, Jonas Denecke, Anna Lehman, Tjitske Kleefstra, Kyra E. Stuurman, Martina Wilke, Michelle L. Thompson, E. Martina Bebin, Emilia K. Bijlsma, Mariëtte J.V. Hoffer, Cacha Peeters‐Scholte, Anne Slavotinek, William A. Weiss, Tiffany Yip, Uğur Hodoğlugil, Amy Whittle, Janette diMonda, Juanita Neira, Sandra Yang, Amelia Kirby, Hailey Pinz, Rosan Lechner, Frank Sleutels, Ingo Helbig, Sarah McKeown, Katherine L. Helbig, Rebecca Willaert, Jane Juusola, Jennifer Semotok, Medard Hadonou, John Short, Naomi Yachelevich, Sajel Lala, Alberto Fernández‐Jaén, Janvier Porta Pelayo, Chiara Klöckner, Susanne B. Kamphausen, Rami Abou Jamra, Maria Arélin, A. Micheil Innes, Anni Niskakoski, Sam Amin, Maggie Williams, Julie Evans, Sarah Smithson, Damian Smedley, Anna de Burca, Usha Kini, Martin B. Delatycki, Lyndon Gallacher, Alison Yeung, Lynn Pais, Michael Field, Ellenore Martin, Perrine Charles, Thomas Courtin, Boris Keren, Maria Iascone, Anna Cereda, Gemma Poke, Véronique Abadie, Christel Chalouhi, Padmini Parthasarathy, Benjamin J. Halliday, Stephen P. Robertson, Stanislas Lyonnet, Jeanne Amiel, Christopher T. Gordon

2021The American Journal of Human Genetics40 citationsDOIOpen Access PDF

Topics & Concepts

HaploinsufficiencyMissense mutationIntellectual disabilityGeneticsBiologyLoss functionFrameshift mutationNeurodevelopmental disorderPhenotypeGlobal developmental delayTrinucleotide repeat expansionMicrocephalyLocus (genetics)Speech delayAlleleGeneHippo pathway signaling and YAP/TAZRNA Research and SplicingGenomics and Rare Diseases
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism | Litcius