title: Chromosome 17p13.3 microdeletion syndrome with unaltered PAFAH1B1 gene.
authors.affiliation: Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras, Universidad ICESI, Cali, Colombia.
authors.forename: E
authors.initials: E
authors.lastname: Candelo
authors.affiliation: Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras, Universidad ICESI, Cali, Colombia.
authors.forename: G
authors.initials: G
authors.lastname: Caicedo
authors.affiliation: Fundación Clínica Valle De Lili, Cali, Colombia.
authors.forename: L
authors.initials: L
authors.lastname: Mejia
authors.affiliation: Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras, Universidad ICESI, Cali, Colombia; Fundación Clínica Valle De Lili, Cali, Colombia. Electronic address: hmpachajoa@icesi.edu.co.
authors.forename: H
authors.initials: H
authors.lastname: Pachajoa
mesh_terms: D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase / Q000235:genetics*; D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005260:Female; D006801:Humans; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D013577:Syndrome
chemical_list: D008869:Microtubule-Associated Proteins; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C084102:PAFAH1B1 protein, human