title: [Deletion of the LIS1, ASPA, TRPV1 and CAMTA2 genes in region 17p13.3 in a patient with Miller-Dieker syndrome].
authors.forename: S
authors.initials: S
authors.lastname: Laurito
authors.forename: E
authors.initials: E
authors.lastname: Goldschmidt
authors.forename: M
authors.initials: M
authors.lastname: Marquez
authors.forename: M
authors.initials: M
authors.lastname: Roque
mesh_terms: D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase / Q000235:genetics*; D002135:Calcium-Binding Proteins / Q000235:genetics; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D054221:Classical Lissencephalies and Subcortical Band Heterotopias / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D007223:Infant; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D010641:Phenotype; D050916:TRPV Cation Channels / Q000235:genetics*; D015534:Trans-Activators / Q000235:genetics
chemical_list: D002135:Calcium-Binding Proteins; D008869:Microtubule-Associated Proteins; D050916:TRPV Cation Channels; C494482:TRPV1 protein, human; D015534:Trans-Activators; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C084102:PAFAH1B1 protein, human