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Article

Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes.

American journal of medical genetics - 5 Jun 1998

Kawano T, Indo Y, Nakazato H, Shimadzu M, Matsuda I

Abstract excerpt

The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked multisystem disorder with major abnormalities of eyes, nervous system, and kidneys. Clinical manifestations include congenital cataract, mental retardation, and renal tubular dysfunction. A gene (OCRL1) responsible for OCRL was identified by positional cloning and its product OCRL-1 protein was shown to be a phosphatidylinositol 4,5-bisphosphate...

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Identifiers

PMID: 9632163

Genes

OCRL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes.PMID 9632163Read ↗

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

Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.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 ↗

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

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

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

Identification of OCRL1 mutations in two Taiwanese Lowe syndrome patients.Semantic proximity Read ↗

OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts.Semantic proximity Read ↗

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

Novel OCRL mutations in Chinese children with Lowe syndrome.Semantic proximity Read ↗

Structure and function of the Lowe syndrome protein OCRL1.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 ↗

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