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Article

[Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene].

Klinische Monatsblatter fur Augenheilkunde - 1 Mar 2007

Keilhauer C N, Gal A, Sold J E, Zimmermann J, Netzer K-O, Schramm L

Abstract excerpt

The oculo-cerebro-renal syndrome of Lowe (OCRL) is a rare X-chromosomal disorder characterised by the triad of congenital cataracts, renal tubular dysfunction, and mental retardation. Typically complete opacification and discoid deformation of the lenses are seen, indicating a developmental defec...

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Source

Identifiers

PMID: 17385124
DOI: 10.1055/s-2007-962947

Genes

OCRL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17385124-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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[Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene].PMID 17385124Read ↗

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

[Clinical and genetic results with reference to corneal alterations in Lowe-syndrome].Semantic proximity Read ↗

A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL.Semantic proximity Read ↗

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

Two cases of Lowe syndrome caused by a novel mutation in OCRL gene in a familySemantic proximity Read ↗

[Analysis of OCRL gene variant in a Chinese pedigree affected with Lowe syndrome].Semantic proximity Read ↗

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

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

Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review.Semantic proximity Read ↗

[Clinical and genetic analysis of an infant with Lowe syndrome caused by exonic duplication of OCRL gene].Semantic proximity Read ↗

Novel mutation of OCRL1 in Lowe syndrome.Semantic proximity Read ↗

[A case report of genetic analysis in the OCRL1 gene in Lowe syndrome].Semantic proximity Read ↗

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