Article

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

American journal of human genetics - 11 Jul 2024

Karayol Remzi, Borroto Maria Carla, Haghshenas Sadegheh, Namasivayam Anoja, Reilly Jack, Levy Michael A, Relator Raissa, Kerkhof Jennifer, McConkey Haley, Shvedunova Maria, Petersen Andrea K, Magnussen Kari, Zweier Christiane, Vasileiou Georgia, Reis André, Savatt Juliann M, Mulligan Meghan R, Bicknell Louise S, Poke Gemma, Abu-El-Haija Aya, Duis Jessica, Hannig Vickie, Srivastava Siddharth, Barkoudah Elizabeth, Hauser Natalie S, van den Born Myrthe, Hamiel Uri, Henig Noa, Baris Feldman Hagit, McKee Shane, Krapels Ingrid P C, Lei Yunping, Todorova Albena, Yordanova Ralitsa, Atemin Slavena, Rogac Mihael, McConnell Vivienne, Chassevent Anna, Barañano Kristin W, Shashi Vandana, Sullivan Jennifer A, Peron Angela, Iascone Maria, Canevini Maria P, Friedman Jennifer, Reyes Iris A, Kierstein Janell, Shen Joseph J, Ahmed Faria N, Mao Xiao, Almoguera Berta, Blanco-Kelly Fiona, Platzer Konrad, Treu Ariana-Berenike, Quilichini Juliette, Bourgois Alexia, Chatron Nicolas, Januel Louis, Rougeot Christelle, Carere Deanna Alexis, Monaghan Kristin G, Rousseau Justine, Myers Kenneth A, Sadikovic Bekim, Akhtar Asifa, Campeau Philippe M