H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?
Erro, Roberto
H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations? [electronic resource] - Movement disorders : official journal of the Movement Disorder Society May 2015 - 828-33 p. digital
Publication Type: Case Reports; Journal Article
1531-8257
10.1002/mds.26129 doi
Adult
Basal Ganglia--pathology
Cerebellum--pathology
Dystonia Musculorum Deformans--genetics
Exons
Female
Genetic Pleiotropy
Heterozygote
Humans
Leukoencephalopathies--genetics
Male
Mutation
Phenotype
Tubulin--genetics
Voice Disorders--congenital
H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations? [electronic resource] - Movement disorders : official journal of the Movement Disorder Society May 2015 - 828-33 p. digital
Publication Type: Case Reports; Journal Article
1531-8257
10.1002/mds.26129 doi
Adult
Basal Ganglia--pathology
Cerebellum--pathology
Dystonia Musculorum Deformans--genetics
Exons
Female
Genetic Pleiotropy
Heterozygote
Humans
Leukoencephalopathies--genetics
Male
Mutation
Phenotype
Tubulin--genetics
Voice Disorders--congenital