Cargando…

Genotypic and Phenotypic Characteristics of 29 Patients With Rare Types of Osteogenesis Imperfecta: Average 5 Years of Follow-Up

Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility and abnormal connective tissue. Ninety percent of OI patients are caused by two mutations of COL1A1 and COL1A2, and more investigation was needed to better understand the rare types of OI. We followed up 29 patie...

Descripción completa

Detalles Bibliográficos
Autores principales: Xi, Lei, Zhang, Hao, Zhang, Zhen-Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8322778/
https://www.ncbi.nlm.nih.gov/pubmed/34335676
http://dx.doi.org/10.3389/fgene.2021.622078