CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome.
Córdova-Fletes
C
C
Rademacher
N
N
Müller
I
I
Mundo-Ayala
J N
JN
Morales-Jeanhs
E A
EA
García-Ortiz
J E
JE
León-Gil
A
A
Rivera
H
H
Domínguez
M G
MG
Kalscheuer
V M
VM
D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X / Q000235:genetics; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D056426:Genetic Loci; D006801:Humans; D007223:Infant; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013036:Spasms, Infantile / Q000235:genetics*; D013577:Syndrome
D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human