Litcius/Paper detail

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

Dmitrijs Rots, Sanaa Choufani, Víctor Faùndes, Alexander J.M. Dingemans, Shelagh Joss, Nicola Foulds, Elizabeth A. V. Jones, Sarah Stewart, Pradeep Vasudevan, Tabib Dabir, Soo‐Mi Park, Rosalyn Jewell, Natasha J. Brown, Lynn Pais, Sébastien Jacquemont, Khadijé Jizi, Conny M.A. van Ravenswaaij‐Arts, Hester Y. Kroes, Constance T. R. M. Stumpel, Charlotte W. Ockeloen, Illja J. Diets, Mathilde Nizon, Marie Vincent, Benjamin Cogné, Thomas Besnard, Marios Kambouris, Emily E. Anderson, Elaine H. Zackai, Carey McDougall, Sarah Donoghue, Anne O’Donnell‐Luria, Zaheer M. Valivullah, Melanie O’Leary, Siddharth Srivastava, Heather M. Byers, Nancy Leslie, Sarah Mazzola, George E. Tiller, Moin Vera, Joseph Shen, Richard G. Boles, Vani Jain, Elise Brischoux‐Boucher, Esther Kinning, Brittany Simpson, Jacques C. Giltay, Jacqueline Harris, Boris Keren, Anne Guimier, Pierre Marijon, Bert B.A. de Vries, Constance Motter, Bryce A. Mendelsohn, Samantha Coffino, Erica H. Gerkes, Alexandra Afenjar, Paola Visconti, Elena Bacchelli, Elena Maestrini, Andrée Delahaye‐Duriez, Catherine Gooch, Yvonne Hendriks, Hieab H.H. Adams, Christel Thauvin‐Robinet, Sarah Josephi‐Taylor, Marta Bertoli, Michael Parker, Julie W. Rutten, Oana Caluseriu, Hilary J. Vernon, Jonah Kaziyev, Jia Zhu, Jessica Kremen, Zoë Frazier, Hailey Osika, David T. Breault, Sreelata Nair, M. E. Suzanne Lewis, Fabiola Ceroni, Marta Viggiano, Annio Posar, Helen Brittain, Traficante Giovanna, Gori Giulia, Lina Quteineh, Russia Ha‐Vinh Leuchter, Evelien Zonneveld‐Huijssoon, Cecília Mellado, Isabelle Marey, Alicia Coudert, M. Alvarez, Milou G. P. Kennis, Arianne Bouman, Maian Roifman, María Inmaculada Amorós Rodríguez, Juan Darío Ortigoza‐Escobar, Vivian Vernimmen, Margje Sinnema, Rolph Pfundt, Han G. Brunner

2024The American Journal of Human Genetics26 citationsDOIOpen Access PDF

Topics & Concepts

Kabuki syndromeGeneticsEpigeneticsHypotoniaBiologyGeneGenomics and Rare DiseasesGenetics and Neurodevelopmental DisordersEpigenetics and DNA Methylation