Litcius/Paper detail

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

2024The American Journal of Human Genetics10 citationsDOIOpen Access PDF

Topics & Concepts

EpilepsyNeurodevelopmental disorderGeneticsBiologyMedicineBioinformaticsComputational biologyNeuroscienceGeneGenetics and Neurodevelopmental DisordersGenomics and Rare DiseasesEpigenetics and DNA Methylation