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Article

Responsiveness to pamidronate treatment is not related to the genotype of type I collagen in patients with osteogenesis imperfecta.

Journal of bone and mineral metabolism - 1 May 2018

Kanno Junko, Saito-Hakoda Akiko, Kure Shigeo, Fujiwara Ikuma

Abstract excerpt

Osteogenesis imperfecta (OI) is a heritable disorder characterized by increased bone fragility, low bone mass, dentinogenesis imperfecta, and blue sclerae. Most patients with OI have a mutation in either COL1A1 or COL1A2, which encode type I collagen. We screened these genes in Japanese patients with OI and compared their genotype and phenotype, focusing on the clinical response to treatment with pamidronate....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28528406
DOI: 10.1007/s00774-017-0840-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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