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History (27)
Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA.
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Reirradiation of recurrent head and neck cancers with curative intent.
Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
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The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain. 2007 Mar; 130(Pt 3):828-35.
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subject areas
Adolescent
Adult
Age of Onset
Child
Child, Preschool
Dystonia
Extremities
Family Health
Female
Genotype
Heterozygote
Humans
Middle Aged
Movement Disorders
Mutation
Parkinsonian Disorders
Phenotype
Sodium-Potassium-Exchanging ATPase
Tremor
authors with profiles
William B. Dobyns