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

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 variant...

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Detalles Bibliográficos
Autores principales: Higuchi, Yousuke, Hasegawa, Kosei, Futagawa, Natsuko, Yamashita, Miho, Tanaka, Hiroyuki, Tsukahara, Hirokazu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8222851/
https://www.ncbi.nlm.nih.gov/pubmed/33939306
http://dx.doi.org/10.1002/mgg3.1675

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8222851/
https://www.ncbi.nlm.nih.gov/pubmed/33939306
http://dx.doi.org/10.1002/mgg3.1675

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