Comparing Clinical and Genetic Characteristics of De Novo and Inherited COL1A1/COL1A2 Variants in a Large Chinese Cohort of Osteogenesis Imperfecta

PURPOSE: Nearly 85%-90% of osteogenesis imperfecta (OI) cases are caused by autosome dominant mutations of COL1A1 and COL1A2 genes, of which de novo mutations cover a large proportion, whereas their characteristics remain to be elucidated. This study aims to compare the differences in clinical and g...

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Detalles Bibliográficos
Autores principales: Mei, Yazhao, Zhang, Hao, Zhang, Zhenlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9329653/
https://www.ncbi.nlm.nih.gov/pubmed/35909573
http://dx.doi.org/10.3389/fendo.2022.935905

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9329653/
https://www.ncbi.nlm.nih.gov/pubmed/35909573
http://dx.doi.org/10.3389/fendo.2022.935905

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