Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
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Published:2021-06
Issue:6
Volume:108
Page:1138-1150
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ISSN:0002-9297
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Container-title:The American Journal of Human Genetics
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language:en
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Short-container-title:The American Journal of Human Genetics
Author:
Chopra MayaORCID, 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.
Funder
Agence nationale de la recherche
Subject
Genetics (clinical),Genetics
Cited by
15 articles.
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