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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 heterogeneity exhibited by this gene, prenatal diagnosis by molecular analysis is limited to families in which the mutation...

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Source

Identifiers

PMID: 9854717
DOI: 10.1002/(sici)1097-0223(199811)18:11<1117::aid-pd413>3.0.co;2-q

Genes

OCRL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

First report of prenatal biochemical diagnosis of Lowe syndrome.PMID 9854717Read ↗

Prenatal diagnosis of lowe syndrome: identification of a novel pathogenic variation in the OCRL1gene.Semantic proximity Read ↗

Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination.Semantic proximity Read ↗

Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype.Semantic proximity Read ↗

Structure and function of the Lowe syndrome protein OCRL1.Semantic proximity Read ↗

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.Semantic proximity Read ↗

The oculocerebrorenal syndrome of Lowe: an update.Semantic proximity Read ↗

"Lowe syndrome: A particularly severe phenotype without clinical kidney involvement".Semantic proximity Read ↗

Prenatal diagnosis of Lowe syndrome by OCRL1 messenger RNA analysis.Semantic proximity Read ↗

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.Semantic proximity Read ↗

Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.Semantic proximity Read ↗

A novel OCRL1 mutation in a patient with the mild phenotype of Lowe syndrome.Semantic proximity Read ↗

Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.Semantic proximity Read ↗

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