title: Genotype and phenotype in familial dysautonomia.
authors.affiliation: Dysautonomia Treatment and Evaluation Center, New York University Medical Center, New York 10016, USA.
authors.forename: F B
authors.initials: FB
authors.lastname: Axelrod
authors.forename: D S
authors.initials: DS
authors.lastname: Goldstein
authors.forename: C
authors.initials: C
authors.lastname: Holmes
authors.forename: I J
authors.initials: IJ
authors.lastname: Kopin
mesh_terms: D004295:Dihydroxyphenylalanine / Q000097:blood*; D004299:Dopamine beta-Hydroxylase / Q000172:deficiency; D004402:Dysautonomia, Familial / Q000097:blood / Q000235:genetics* / Q000503:physiopathology; D005808:Genes, Recessive; D005838:Genotype; D006801:Humans; D007024:Hypotension, Orthostatic; D008734:Methoxyhydroxyphenylglycol / Q000031:analogs & derivatives* / Q000097:blood; D009638:Norepinephrine / Q000097:blood; D010641:Phenotype; D012016:Reference Values
chemical_list: D008734:Methoxyhydroxyphenylglycol; D004295:Dihydroxyphenylalanine; D004299:Dopamine beta-Hydroxylase; C010117:3,4-dihydroxyphenylglycol; D009638:Norepinephrine