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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, Anoja Namasivayam,Jack Reilly,Michael A. Levy,Raissa Relator,Jennifer Kerkhof,Haley Mcconkey,Maria Shvedunova,Andrea K. Petersen,Kari Magnussen,Christiane Zweier,Georgia Vasileiou,Andre 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 s. Hauser,Myrthe van den Born,Uri Hamiel,Noa Henig,Hagit Baris Feldman,Shane Mckee,Ingrid P. C. Krapels,Yunping Lei,Albena Todorova,Ralitsa Yordanova,Slavena Atemin, Mihael Rogac,Vivienne Mcconnell,Anna Chassevent,Kristin W. Baranano,Vandana Shashi,Jennifer A. Sullivan,Angela Peron,Maria Iascone, Maria P. Canevini,Jennifer Friedman, Iris A. Reyes, Janell Kierstein,Joseph J. Shen, Faria N. Ahmed,Xiao Mao,Berta Almoguera,Fiona Blanco-Kelly,Konrad Platzer, Ariana-Berenike Treu, Juliette Quilichini,Alexia Bourgois,Nicolas Chatron,Louis Januel,Christelle Rougeot,Deanna Alexis Carere,Kristin G. Monaghan,Justine Rousseau,Kenneth A. Myers,Bekim Sadikovic,Asifa Akhtar,Philippe M. Campeau

The American Journal of Human Genetics（2024）

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关键词
MSL2,male-specific lethal complex,neurodevelopmental syndrome,epigenetics,autism,epilepsy,connective tissue,episignature,iPSC
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