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Article

A co-occurrence of osteogenesis imperfecta type VI and cystinosis.

American journal of medical genetics. Part A - 1 Jun 2012

Tucker Tracy, Nelson Tanya, Sirrs Sandra, Roughley Peter, Glorieux Francis H, Moffatt Pierre, Schlade-Bartusiak Kamilla, Brown Lindsay, Rauch Frank

Abstract excerpt

Osteogenesis imperfecta type VI (OI type VI) is a rare autosomal recessive disorder caused by mutations in the SERPINF1 gene that encodes pigment epithelium-derived factor (PEDF). Cystinosis is an autosomal recessive lysosomal transport disorder caused by mutations in the CTNS gene. Both SERPINF1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22528245
DOI: 10.1002/ajmg.a.35319

Genes

SERPINF1
CTNS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22528245-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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A co-occurrence of osteogenesis imperfecta type VI and cystinosis.PMID 22528245Read ↗

Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.Semantic proximity Read ↗

Mutations in SERPINF1 cause osteogenesis imperfecta type VI.Semantic proximity Read ↗

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.Semantic proximity Read ↗

Rare homozygous SERPINF1 pathogenic variant causing autosomal recessive osteogenesis imperfecta type VI in two unrelated Ecuadorian familiesSemantic proximity Read ↗

Impaired SERPINF1 Expression due to c.[-37C>A];[829_831del] Causes Osteogenesis Imperfecta VI.Semantic proximity Read ↗

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A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset.Semantic proximity Read ↗

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A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor.Semantic proximity Read ↗

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