Condition: DYSTONIA 28, CHILDHOOD-ONSET


rs1555735051 in IGFLR1;KMT2B gene and DYSTONIA 28, CHILDHOOD-ONSET PMID 27992417 2017 Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

PMID 27839873 2016 Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.

rs1057519279 in KMT2B gene and DYSTONIA 28, CHILDHOOD-ONSET PMID 27839873 2016 Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.

PMID 27992417 2017 Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

PMID 28520167 2017 KMT2B rare missense variants in generalized dystonia.