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A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members Cover

A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members

Tremor and Other Hyperkinetic Movements
Volume 12 (2022): Issue 1
By: Laura R. Owczarzak,  Kelsey E. Hogan,  Richard T. Dineen,  Chandler E. Gill and  Mindy H. Li  
Open Access
|Mar 2022

Authors

Laura R. Owczarzak

Laura_Owczarzak@Rush.edu

Rush Medical College and Rush University Medical Center, Chicago, IL

Kelsey E. Hogan

Kelsey_E_Hogan@rush.edu

Division of Genetics, Department of Pediatrics, Rush Medical College and Rush University Medical Center, Chicago, IL

Richard T. Dineen

Richard_T_Dineen@rush.edu

Division of Genetics, Department of Pediatrics, Rush Medical College and Rush University Medical Center, Chicago, IL

Chandler E. Gill

Chandler_E_Gill@rush.edu

Section of Movement Disorders, Department of Neurological Sciences, Rush University Medical Center, Chicago, IL

Mindy H. Li

Mindy_Li@rush.edu

Division of Genetics, Department of Pediatrics, Rush Medical College and Rush University Medical Center, Chicago, IL
DOI: https://doi.org/10.5334/tohm.679 | Journal eISSN: 2160-8288
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Language: English
Submitted on: Dec 16, 2021
Accepted on: Feb 10, 2022
Published on: Mar 17, 2022
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
KMT2B,
dystonia,
DYT-28,
variable expressivity,
MLL4,
complex dystonia

© 2022 Laura R. Owczarzak, Kelsey E. Hogan, Richard T. Dineen, Chandler E. Gill, Mindy H. Li, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.

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