CDKL5 disruption by t(X;18) in a girl with West syndrome.
Nishimura
A
A
Takano
T
T
Mizuguchi
T
T
Saitsu
H
H
Takeuchi
Y
Y
Matsumoto
N
N
D001483:Base Sequence; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008957:Models, Genetic; D008969:Molecular Sequence Data; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013036:Spasms, Infantile / Q000235:genetics*; D014178:Translocation, Genetic
D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human