Associated Papers
KMT2B-Related Dystonia: Challenges in Diagnosis and Treatment.
Aksoy A et al.
Molecular Syndromology, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA et al.
Hgg Advances, 2022
35047860 (PubMed )
Supplement: mmc2.xlsx › Table_S1_samples
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.
Ciolfi A et al.
Clinical Epigenetics, 2021
Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.
Ng A et al.
Bmc Neurology, 2020
32546208 (PubMed )
Supplement: 12883_2020_1798_MOESM7_ESM.xlsx › Sheet1
Update on KMT2B-Related Dystonia.
Zech M et al.
Current Neurology and Neuroscience Reports, 2019
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.
Carecchio M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2019
The relevance of gene panels in movement disorders diagnosis: A lab perspective.
Reale C et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
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