Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene.
Doummar
Diane
D
Clot
Fabienne
F
Vidailhet
Marie
M
Afenjar
Alexandra
A
Durr
Alexandra
A
Brice
Alexis
A
Mignot
Cyril
C
Guet
Agnès
A
de Villemeur
Thierry Billette
TB
Rodriguez
Diana
D
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*
D006897:Hydroxyindoleacetic Acid; D014446:Tyrosine 3-Monooxygenase; D006719:Homovanillic Acid