Prenatal diagnosis of Löwe's syndrome: a case report with evidence of de novo mutation.
Gazit
E
E
Division of Pediatrics, Obstetrics and Gynecology, Chaim Sheba Medical Center, Tel Hashomer, Israel.
Brand
N
N
Harel
Y
Y
Lotan
D
D
Barkai
G
G
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