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Article

Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.

Orphanet journal of rare diseases - 1 Dec 2015

Lin Hsiang-Yu, Chuang Chih-Kuang, Su Yi-Ning, Chen Ming-Ren, Chiu Hui-Chin, Niu Dau-Ming, Lin Shuan-Pei

Abstract excerpt

BACKGROUND: Osteogenesis imperfecta (OI) is a congenital disorder characterized by increased bone fragility and low bone mass. METHODS: The presence of COL1A1 or COL1A2 mutation was investigated by direct sequencing in 72 patients with OI type I, III, or IV (27 males and 45 females; age range 0.2-62 years) from 37 unrelated families. The clinical features of these patients were also recorded. RESULTS:...

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Identifiers

PMID: 26627451
DOI: 10.1186/s13023-015-0370-2
PMCID: PMC4666204

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