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Article

Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation.

Current opinion in pediatrics - 1 Aug 2014

Marini Joan C, Reich Adi, Smith Simone M

Abstract excerpt

PURPOSE OF REVIEW: Osteogenesis imperfecta or 'brittle bone disease' has mainly been considered a bone disorder caused by collagen mutations. Within the last decade, however, a surge of genetic discoveries has created a new paradigm for osteogenesis imperfecta as a collagen-related disorder, wher...

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Source

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Identifiers

PMID: 25007323
DOI: 10.1097/MOP.0000000000000117
PMCID: PMC4183132

Genes

BMP1
CRTAP
WNT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25007323-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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