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Article

Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings.

European journal of ophthalmology - 1 Jan 2000

Ismail A R, Lachlan K L, Mumford A D, Temple I K, Hodgkins P R

Abstract excerpt

PURPOSE: To describe the cataract morphology and genetic and biochemical findings in a four-generation family with hereditary hyperferritinemia cataract syndrome (HHCS). METHODS: Family members of the proband with HHCS were investigated. DNA sequencing was carried out to identify the iron respons...

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PMID: 16496261
DOI: 10.1177/112067210601600125

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16496261-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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