Tremor-Dominant Movement Disorder in ANKRD11- Associated KBG Syndrome
Tremor-Dominant Movement Disorder in ANKRD11- Associated KBG Syndrome
About this item
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Publisher
England: Ubiquity Press
Journal title
Language
English
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Publication information
Publisher
England: Ubiquity Press
Subjects
More information
Scope and Contents
Contents
KBG syndrome is a monogenic disorder caused by heterozygous pathogenic variants in
. A recent single-case study suggested that the clinical spectrum of KBG syndrome, classically defined by distinctive craniofacial traits and developmental delay, may include movement disorders.
We report a 24-year-old patient harboring a pathogenic
frameshi...
Alternative Titles
Full title
Tremor-Dominant Movement Disorder in ANKRD11- Associated KBG Syndrome
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Record Identifier
TN_cdi_proquest_miscellaneous_3111204976
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3111204976
Other Identifiers
ISSN
2160-8288
E-ISSN
2160-8288
DOI
10.5334/tohm.926
