Cerebral malformation in a child with profound psychomotor retardation and infantile spasms.
Mizuguchi
M
M
Department of Pediatrics, Jichi Medical School, Minamikawachi, Tochigi, Japan. mmizuguc@jichi.ac.jp
Itoh
M
M
Takashima
S
S
D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006130:Growth Disorders / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007223:Infant; D008869:Microtubule-Associated Proteins / Q000235:genetics; D011596:Psychomotor Disorders / Q000235:genetics / Q000473:pathology*; D013036:Spasms, Infantile / Q000235:genetics / Q000473:pathology*; D013577:Syndrome
D008869:Microtubule-Associated Proteins; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C084102:PAFAH1B1 protein, human