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Article

Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.

American journal of human genetics - 12 Mar 2010

Christiansen Helena E, Schwarze Ulrike, Pyott Shawna M, AlSwaid Abdulrahman, Al Balwi Mohammed, Alrasheed Shatha, Pepin Melanie G, Weis Mary Ann, Eyre David R, Byers Peter H

Abstract excerpt

Osteogenesis imperfecta (OI) is characterized by bone fragility and fractures that may be accompanied by bone deformity, dentinogenesis imperfecta, short stature, and shortened life span. About 90% of individuals with OI have dominant mutations in the type I collagen genes COL1A1 and COL1A2. Rece...

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Source

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Identifiers

PMID: 20188343
DOI: 10.1016/j.ajhg.2010.01.034
PMCID: PMC2833387

Genes

SERPINH1
CRTAP
FKBP10
PPIB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20188343-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.PMID 20188343Read ↗

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