MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia

Kimberly M. Reid, Robert Spaull, Smrithi Salian, Katy Barwick, Esther Meyer, Juan Zhen, Hiromi Hirata, Diba Sheipouri, Hind Benkerroum, Kathleen M. Gorman, Apostolos Papandreou, Michael A. Simpson, Yoshinobu Hirano, Irene Farabella, Maya Topf, Detelina Grozeva, Keren Carss, Martin Smith, Hardev Pall, Peter LuntSusanna De Gressi, Erik-Jan Kamsteeg, Tobias B Haack, Lucinda Carr, Rita Guerreiro, Jose Bras, Eamonn R. Maher, Robert J. Vandenberg, F. Lucy Raymond, Wui K Chong, Sniya Sudhakar, Kshitij Mankad, Maarten E Reith, Philippe M. Campeau, Robert J. Harvey, Manju A. Kurian

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Biochemistry, Genetics and Molecular Biology