title: Prenatal diagnosis of Löwe's syndrome: a case report with evidence of de novo mutation.
authors.affiliation: Division of Pediatrics, Obstetrics and Gynecology, Chaim Sheba Medical Center, Tel Hashomer, Israel.
authors.forename: E
authors.initials: E
authors.lastname: Gazit
authors.forename: N
authors.initials: N
authors.lastname: Brand
authors.forename: Y
authors.initials: Y
authors.lastname: Harel
authors.forename: D
authors.initials: D
authors.lastname: Lotan
authors.forename: G
authors.initials: G
authors.lastname: Barkai
mesh_terms: D015139:Blotting, Southern; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D009154:Mutation; D009800:Oculocerebrorenal Syndrome / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis; D015499:Renal Tubular Transport, Inborn Errors / Q000175:diagnosis*; D014960:X Chromosome