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

Kimberley 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 Lunt,Susanna De Gressi,Erik-Jan Kamsteeg,Tobias B. Haack,Lucinda Carr,Rita Guerreiro,Jose Bras,Eamonn R. Maher,Richard H. Scott,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

Movement disorders（2022）

Cited 2|Views73
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Abstract
Despite advances in next generation sequencing technologies, the identification of variants of uncertain significance (VUS) can often hinder definitive diagnosis in patients with complex neurodevelopmental disorders.
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Key words
MED27,MPPE1,status dystonicus,dystonia
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