title: Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene.
authors.forename: Diane
authors.initials: D
authors.lastname: Doummar
authors.forename: Fabienne
authors.initials: F
authors.lastname: Clot
authors.forename: Marie
authors.initials: M
authors.lastname: Vidailhet
authors.forename: Alexandra
authors.initials: A
authors.lastname: Afenjar
authors.forename: Alexandra
authors.initials: A
authors.lastname: Durr
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Cyril
authors.initials: C
authors.lastname: Mignot
authors.forename: Agnès
authors.initials: A
authors.lastname: Guet
authors.forename: Thierry Billette
authors.initials: TB
authors.lastname: de Villemeur
authors.forename: Diana
authors.initials: D
authors.lastname: Rodriguez
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D006719:Homovanillic Acid / Q000378:metabolism; D006801:Humans; D006897:Hydroxyindoleacetic Acid / Q000378:metabolism; D007223:Infant; D009123:Muscle Hypotonia / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D014446:Tyrosine 3-Monooxygenase / Q000235:genetics*
chemical_list: D006897:Hydroxyindoleacetic Acid; D014446:Tyrosine 3-Monooxygenase; D006719:Homovanillic Acid