Psychotic symptoms, epilepsy, mental retardation, and brain malformation in a patient with 45,XO/46,XX mosaicism: detection of mutation of ARX molecule.
Fukuda
Koji
K
Wakuda
Tomoyasu
T
Kageyama
Michiyo
M
Kitamura
Kinio
K
Tanaka
Masaki
M
Tawata
Yasuhide
Y
Miyauchi
Toshiro
T
Ishida
Shiro
S
D001921:Brain / Q000002:abnormalities*; D041321:Chromosomes, Human, X / Q000235:genetics*; D004827:Epilepsy / Q000150:complications / Q000235:genetics* / Q000523:psychology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics* / Q000523:psychology; D008875:Middle Aged; D009030:Mosaicism; D009154:Mutation / Q000235:genetics*; D011618:Psychotic Disorders / Q000150:complications / Q000235:genetics* / Q000523:psychology