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Article

Osteogenesis imperfecta type V: Genetic and clinical findings in eleven Chinese patients.

Clinica chimica acta; international journal of clinical chemistry - 1 Nov 2016

Liu Yi, Wang Jiawei, Ma Doudou, Lv Fang, Xu Xiaojie, Xia Weibo, Jiang Yan, Wang Ou, Xing Xiaoping, Zhou Peiran, Wang Jianyi, Yu Wei, Li Mei

Abstract excerpt

INTRODUCTION: Osteogenesis imperfecta (OI) type V is a rare inherited disease characterized by multiple fractures, intraosseous membrane calcification, and hypercallus formation. We investigate the causative gene, phenotype and also observe the effects of zoledronic acid in Chinese OI type V patients. METHODS: The clinical phenotype and causative gene mutation was investigated in eleven patients with type V OI....

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Source

Identifiers

PMID: 27678411
DOI: 10.1016/j.cca.2016.09.019

Genes

IFITM5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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