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Article

Decreased bone density in carriers and patients of an Israeli family with the osteoporosis-pseudoglioma syndrome.

The Israel Medical Association journal : IMAJ - 1 Jun 2003

Lev Dorit, Binson Inga, Foldes A Joseph, Watemberg Nathan, Lerman-Sagie Tally

Abstract excerpt

BACKGROUND: The osteoporosis-pseudoglioma syndrome is a rare autosomal recessive disorder characterized by severe juvenile-onset osteoporosis and congenital or early-onset blindness. Other manifestations include muscular hypotonia, ligamentous laxity, mild mental retardation and seizures. The gen...

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Identifiers

PMID: 12841014

Genes

LRP5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12841014-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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