First report of prenatal biochemical diagnosis of Lowe syndrome.

doi:10.1002/(sici)1097-0223(199811)18:11<1117::aid-pd413>3.0.co;2-q

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Article

First report of prenatal biochemical diagnosis of Lowe syndrome.

Prenatal diagnosis - 1 Nov 1998

Suchy S F, Lin T, Horwitz J A, O'Brien W E, Nussbaum R L

Abstract excerpt

The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked disorder with a severe phenotype characterized by congenital cataracts, renal tubular dysfunction and neurological deficits. The gene has been characterized and mutations have been identified in patients. Owing to the allelic hetero...

Topics

Amniocentesis
Amniotic Fluid
Blotting, Western
Cells, Cultured
Chorionic Villi
Deoxyribonucleases, Type II Site-Specific
Female
Fibroblasts
Humans
Lymphocytes
Male
Mutation
Oculocerebrorenal Syndrome
Phosphoric Monoester Hydrolases
Pregnancy

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