Exome sequencing in paediatric patients with movement disorders

Exome sequencing in paediatric patients with movement disorders

Abstract Background Movement disorders are a group of heterogeneous neurological diseases including hyperkinetic disorders with unwanted excess movements and hypokinetic disorders with reduction in the degree of movements. The objective of our study is to investigate the genetic etiology of a cohort...

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Bibliographic Details
Main Authors: Anna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, Christopher Chun-Yu Mak, Kate Lok-San Chan, Richard J. T. Rodenburg, Monkol Lek, Shushu Huang, Sander Pajusalu, Man-Mut Yau, Cheung Tsoi, Sharon Fung, Kam-Tim Liu, Che-Kwan Ma, Sheila Wong, Eric Kin-Cheong Yau, Shuk-Mui Tai, Eva Lai-Wah Fung, Nick Shun-Ping Wu, Li-Yan Tsung, Jan Smeitink, Brian Hon-Yin Chung, Cheuk-Wing Fung
Format: Article
Language:English
Published: BMC 2021-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Movement disorders
Whole exome sequencing
Genetic diagnosis
Treatment
Online Access:https://doi.org/10.1186/s13023-021-01688-6

Internet

https://doi.org/10.1186/s13023-021-01688-6

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