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Article

Novel OCRL mutations in Chinese children with Lowe syndrome.

World journal of pediatrics : WJP - 1 Feb 2013

Zhang Yan-Qin, Wang Fang, Ding Jie, Yan Hui, Yang Yan-Ling

Abstract excerpt

BACKGROUND: Lowe syndrome is a rare X-linked recessive hereditary disease caused by mutations of the OCRL gene, which encodes an inositol polyphosphate-5-phosphatase. The disease is clinically characterized by congenital cataracts, psychomotor retardation, and proximal tubulopathy. METHODS: We retrospectively reviewed three unrelated Chinese patients with Lowe syndrome, clinically diagnosed by the abnormalities...

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Identifiers

PMID: 23389333
DOI: 10.1007/s12519-013-0406-4

Genes

OCRL

Provenance

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

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