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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 Veenstra-Knol,Grazia M. S. Mancini,Gerarda Cappuccio,Nicola Brunetti-Pierri,Fanny Kortuem,Maja Hempel,Jonas Denecke,Anna Lehman,Tjitske Kleefstra,Kyra E. Stuurman,Martina Wilke,Michelle L. Thompson,E. Martina Bebin,Emilia K. Bijlsma,Mariette J. Hoffer,Cacha Peeters-Scholte,Anne Slavotinek,William A. Weiss,Tiffany Yip,Ugur Hodoglugil,Amy Whittle,Janettedi Monda,Juanita Neira,Sandra Yang,Amelia Kirby,Hailey Pinz,Rosan Lechner,Frank Sleutels,Ingo Helbig,Sarah McKeown,Katherine Helbig,Rebecca Willaert,Jane Juusola, Jennifer Semotok,Medard Hadonou,John Short,Naomi Yachelevich, Sajel Lala,Alberto Fernandez-Jaen, Janvier Porta Pelayo,Chiara Kloeckner,Susanne B. Kamphausen,Rami Abou Jamra,Maria Arelin,A. Micheil Innes, Anni Niskakoski,Sam Amin,Maggie Williams,Julie Evans,Sarah Smithson,Damian Smedley, Annade 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,Veronique Abadie,Christel Chalouhi,Padmini Parthasarathy,Benjamin J. Halliday,Stephen P. Robertson,Stanislas Lyonnet,Jeanne Amiel,Christopher T. Gordon

The American Journal of Human Genetics（2021）

Cited 16|Views47
Key words
ANKRD17,ankyrin repeats,intellectual disability,neurodevelopmental syndrome,speech delay,dysmorphism,Hippo pathway,Yorkie,Mask
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