Abnormalities in central nervous system development in osteogenesis imperfecta type II.

doi:10.1007/s100249900100

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Article

Abnormalities in central nervous system development in osteogenesis imperfecta type II.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2000

Emery S C, Karpinski N C, Hansen L, Masliah E

Abstract excerpt

Osteogenesis imperfecta (OI) type II is a perinatally lethal condition resulting from mutations in type I collagen genes. In addition to characteristic skeletal anomalies, OI type II has recently been shown to be associated with neuropathological alterations, specifically perivenous microcalcific...

Topics

Adult
Central Nervous System
Collagen
Demography
Female
Gestational Age
Humans
Infant, Newborn
Male
Mutation
Osteogenesis Imperfecta
Retrospective Studies

Source

Open in PubMed

Identifiers

PMID: 9949218
DOI: 10.1007/s100249900100

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9949218-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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