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Article

Neuroimaging findings in malignant infantile osteopetrosis due to OSTM1 mutations.

Neuropediatrics - 1 Jun 2007

Castellano Chiodo D, DiRocco M, Gandolfo C, Morana G, Buzzi D, Rossi A

Abstract excerpt

Malignant infantile osteopetrosis (MIOP) is a rare autosomal recessive disorder of bone resorption characterized by early bone marrow failure, proneness to fractures, and visual deterioration, variably associated with impairments of other cranial nerves due to narrowing of skull base foramina. Ab...

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Source

Identifiers

PMID: 17985267
DOI: 10.1055/s-2007-990267

Genes

OSTM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17985267-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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