Article (Scientific journals)
Late Diagnosis of 18p Syndrome with Movement Disorders by Whole Exome Sequencing Read‐Depth Based Algorithm
Mouraux, Charlotte; Depierreux, Frédérique
2023In Movement Disorders Clinical Practice
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Keywords :
Neurology (clinical); Neurology; Movement Disorders; 18p Syndrome; Neurogenetics; Dysmorphia; Intellectual disability
Abstract :
[en] Late diagnosis of 18p Syndrome revealed by generalized dystonia, using new genetic techniques (Whole Exome Sequencing Read-Depth Based Algorithm)
Research Center/Unit :
GIGA CRC In vivo Imaging-Neuroimaging, data acquisition and processing - ULiège
Disciplines :
Neurology
Laboratory medicine & medical technology
Author, co-author :
Mouraux, Charlotte  ;  Centre Hospitalier Universitaire de Liège - CHU > > Service de neurologie
Depierreux, Frédérique  ;  Centre Hospitalier Universitaire de Liège - CHU > > Service de neurologie
Language :
English
Title :
Late Diagnosis of 18p Syndrome with Movement Disorders by Whole Exome Sequencing Read‐Depth Based Algorithm
Publication date :
25 August 2023
Journal title :
Movement Disorders Clinical Practice
eISSN :
2330-1619
Publisher :
Wiley
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 26 August 2023

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