title: Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly.
authors.affiliation: Erasmus MC, Department of Clinical Genetics, 3000 CA Rotterdam, the Netherlands.
authors.forename: M E C
authors.initials: ME
authors.lastname: Meuwissen
authors.forename: L S
authors.initials: LS
authors.lastname: de Vries
authors.forename: H A
authors.initials: HA
authors.lastname: Verbeek
authors.forename: M H
authors.initials: MH
authors.lastname: Lequin
authors.forename: P P
authors.initials: PP
authors.lastname: Govaert
authors.forename: R
authors.initials: R
authors.lastname: Schot
authors.forename: F M
authors.initials: FM
authors.lastname: Cowan
authors.forename: R
authors.initials: R
authors.lastname: Hennekam
authors.forename: P
authors.initials: P
authors.lastname: Rizzu
authors.forename: F W
authors.initials: FW
authors.lastname: Verheijen
authors.forename: M W
authors.initials: MW
authors.lastname: Wessels
authors.forename: G M S
authors.initials: GM
authors.lastname: Mancini
mesh_terms: D002526:Cerebellar Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D002531:Cerebellum / Q000002:abnormalities / Q000000981:diagnostic imaging; D002543:Cerebral Hemorrhage / Q000000981:diagnostic imaging / Q000235:genetics; D002675:Child, Preschool; D024141:Collagen Type IV / Q000235:genetics*; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006832:Hydranencephaly / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D065708:Porencephaly; D016216:Ultrasonography, Prenatal
chemical_list: C547475:COL4A1 protein, human; D024141:Collagen Type IV