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

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.

doi:10.1016/j.ajhg.2024.05.001

The American Journal of Human Genetics

2024

DOI: 10.1016/j.ajhg.2024.05.001

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

Remzi Karayol,

Maria Carla Borroto,

Sadegheh Haghshenas

et al.

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

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References 70 publications

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