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

BACKGROUND: 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. OBJECTIVE: The objective of this study was to identify and characterize...

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Detalles Bibliográficos
Autores principales: Reid, Kimberley M., Spaull, Robert, Salian, Smrithi, Barwick, Katy, Meyer, Esther, Zhen, Juan, Hirata, Hiromi, Sheipouri, Diba, Benkerroum, Hind, Gorman, Kathleen M., Papandreou, Apostolos, Simpson, Michael A., Hirano, Yoshinobu, Farabella, Irene, Topf, Maya, Grozeva, Detelina, Carss, Keren, Smith, Martin, Pall, Hardev, Lunt, Peter, De Gressi, Susanna, Kamsteeg, Erik‐Jan, Haack, Tobias B., Carr, Lucinda, Guerreiro, Rita, Bras, Jose, Maher, Eamonn R., Scott, Richard H., Vandenberg, Robert J., Raymond, F. Lucy, Chong, Wui K., Sudhakar, Sniya, Mankad, Kshitij, Reith, Maarten E., Campeau, Philippe M., Harvey, Robert J., Kurian, Manju A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Regular Issue Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9796674/
https://www.ncbi.nlm.nih.gov/pubmed/35876425
http://dx.doi.org/10.1002/mds.29147

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