Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands

Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands

Abstract Background Osteogenesis imperfecta (OI) is a rare connective‐tissue disorder characterized by bone fragility. Approximately 90% of all OI cases are caused by variants in COL1A1 or COL1A2. Additionally, IFITM5 variants are responsible for the unique OI type 5. We previously analyzed COL1A1/2...

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Bibliographic Details
Main Authors: Yousuke Higuchi, Kosei Hasegawa, Natsuko Futagawa, Miho Yamashita, Hiroyuki Tanaka, Hirokazu Tsukahara
Format: Article
Language:English
Published: Wiley 2021-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
COL1A1
COL1A2
IFITM5
Osteogenesis imperfecta
variant
Online Access:https://doi.org/10.1002/mgg3.1675

Internet

https://doi.org/10.1002/mgg3.1675

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