[Miller-Dieker syndrome: partial expression due to chromosome translocation].
Pato-Pato
A
A
Servicio de Neurología, Hospital Clinico Universitario de Santiago de Compostela, Santiago de Compostela, España. patopatonrl@mixmail.com
Ansede
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A
Vadillo-Olmo
F J
FJ
D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002540:Cerebral Cortex / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics / Q000378:metabolism; D013577:Syndrome; D014178:Translocation, Genetic
D008869:Microtubule-Associated Proteins; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C084102:PAFAH1B1 protein, human