title: De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations.
authors.forename: Swaroop
authors.initials: S
authors.lastname: Aradhya
authors.forename: Nizar
authors.initials: N
authors.lastname: Smaoui
authors.forename: Michael
authors.initials: M
authors.lastname: Marble
authors.forename: Yves
authors.initials: Y
authors.lastname: Lacassie
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002648:Child; D058674:Chromosome Duplication / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology; D005124:Eye Abnormalities / Q000235:genetics / Q000473:pathology; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008831:Microcephaly / Q000235:genetics / Q000473:pathology; D009123:Muscle Hypotonia / Q000235:genetics / Q000473:pathology; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010641:Phenotype; D012097:Repressor Proteins / Q000235:genetics*; D012640:Seizures / Q000235:genetics / Q000473:pathology
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins