Clinical and molecular features of patients with COL1 ‐related disorders: Implications for the wider spectrum and the risk of vascular complications

Abnormalities in type I procollagen genes (COL1A1 and COL1A2) are responsible for hereditary connective tissue disorders including osteogenesis imperfecta (OI), specific types of Ehlers‐Danlos syndrome (EDS), and COL1‐related overlapping disorder (C1ROD). C1ROD is a recently proposed disorder charac...

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Detalles Bibliográficos
Autores principales: Takeda, Ryojun, Yamaguchi, Tomomi, Hayashi, Shujiro, Sano, Shinichirou, Kawame, Hiroshi, Kanki, Sachiko, Taketani, Takeshi, Yoshimura, Hidekane, Nakamura, Yukio, Kosho, Tomoki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545637/
https://www.ncbi.nlm.nih.gov/pubmed/35822426
http://dx.doi.org/10.1002/ajmg.a.62887

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