Condition: Leukodystrophy, Hypomyelinating, 6
rs483352809 in
TUBB4A gene and
Leukodystrophy, Hypomyelinating, 6
PMID 24706558 2014 Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).
PMID 24850488 2014 Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.
PMID 23582646 2013 A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
PMID 23424103 2013 Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.
PMID 24742798 2014 Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.
PMID 26643067 2016 TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
PMID 25085639 2014 TUBB4A de novo mutations cause isolated hypomyelination.
PMID 25772097 2015 Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.
PMID 28973395 2017 TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.
PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.
PMID 25168210 2015 TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.
PMID 29451896 2018 Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.
PMID 24974158 2015 A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.
PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
PMID 25545912 2015 H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?
PMID 25497598 2015 Exome sequencing in undiagnosed inherited and sporadic ataxias.