Heterozygous UBR5 Variants Result in a Neurodevelopmental Syndrome with Developmental Delay, Autism, and Intellectual Disability
Pascale Sabeh, Samantha A. Dumas,Claudia Maios, Hiba Daghar, Marek Korzeniowski,Justine Rousseau, Matthew Lines,Andrea Guerin,John J. Millichap, Megan Landsverk,Theresa Grebe,Kristin Lindstrom,Jonathan Strober, Tarik Ait Mouhoub,Christiane Zweier,Michelle Steinraths,Moritz Hebebrand,Bert Callewaert,Rami Abou Jamra, Monika Kautza-Lucht,Meret Wegler, Paul Kruszka,Candy Kumps, Ehud Banne, Marta Biderman Waberski,Anne Dieux, Sarah Raible,Ian Krantz,Livija Medne, Kieran Pechter, Laurent Villard, Renzo Guerrini,Claudia Bianchini, Carmen Barba, Davide Mei, Xavier Blanc, Christine Kallay,Emmanuelle Ranza, Xiao-Ru Yang,Emily O'Heir, Kirsten A. Donald,Serini Murugasen,Zandre Bruwer, Muge Calikoglu, Jennifer M. Mathews,Marion Lesieur-Sebellin, Genevieve Baujat,Nicolas Derive, Tyler Mark Pierson, Jill R. Murrell,Amelle Shillington,Clothilde Ormieres,Sophie Rondeau, Andre Reis, Alberto Fernandez-Jaen,Ping Yee Billie Au,David A. Sweetser,Lauren C. Briere,Nathalie Couque,Laurence Perrin, Jennifer Schymick,Paul Gueguen,Mathilde Lefebvre, Michael Van Andel, Jane Juusola, Stylianos E. Antonarakis, Ethud Banne, J. Alex Parker, Barrington G. Burnett, Philippe M. Campeau AMERICAN JOURNAL OF HUMAN GENETICS（2025）
关键词
Mendelian phenotype,autosomal dominant,ubiquitin,developmental disease,autism,epilepsy,intellectual disability,movement disorders,UBR5
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