Genetics, pathogenesis and complications of osteopetrosis.

doi:10.1016/j.bone.2007.08.029

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Article

Genetics, pathogenesis and complications of osteopetrosis.

Bone - 1 Jan 2008

Del Fattore Andrea, Cappariello Alfredo, Teti Anna

Abstract excerpt

Human osteopetrosis is a rare genetic disorder caused by osteoclast failure, which ranges widely in severity. In the most severe forms, deficient bone resorption prevents enlargement of bone cavities, impairing development of bone marrow, leading to hematological failure. Closure of bone foramina causes cranial nerve compression with visual and hearing deterioration. Patients also present with osteosclerosis,...

Topics

Animals
Genetic Predisposition to Disease
Humans
Models, Animal
Mutation
Osteopetrosis
Signal Transduction

Source

Open in PubMed

Identifiers

PMID: 17936098
DOI: 10.1016/j.bone.2007.08.029

Genes

OSTM1
PLEKHM1
TCIRG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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