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Article

Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jun 2002

Van Hul Els, Gram Jeppe, Bollerslev Jens, Van Wesenbeeck Liesbeth, Mathysen Danny, Andersen Poul Erik, Vanhoenacker Filip, Van Hul Wim

Abstract excerpt

The osteopetroses are a heterogeneous group of genetic conditions characterized by increased bone density due to impaired bone resorption by osteoclasts. Within the autosomal dominant form of osteopetrosis, the radiological type I (ADOI) is characterized by a generalized osteosclerosis, most pronounced at the cranial vault. The patients are often asymptomatic but some suffer from pain and hearing loss. ADOI is...

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Share to Chromosome Mapping
Share to Chromosomes, Human, Pair 11

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12054167
DOI: 10.1359/jbmr.2002.17.6.1111

Genes

LRP5
TCIRG1

Provenance

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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