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Article

Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings.

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

van Dijk Fleur S, Nikkels Peter G J, den Hollander Nicolette S, Nesbitt Isabel M, van Rijn Rick R, Cobben Jan M, Pals Gerard

Abstract excerpt

We report a large consanguineous Turkish family in which multiple individuals are affected with autosomal recessive lethal or severe osteogenesis imperfecta (OI) due to a novel homozygous LEPRE1 mutation. In one affected individual histological studies of bone tissue were performed, which may ind...

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Source

Identifiers

PMID: 20946018
DOI: 10.2350/10-03-0806-CR.1

Genes

CRTAP
PPIB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20946018-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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