Case Report: A novel de novo variant of COL1A1 in fetal genetic osteogenesis imperfecta

OBJECTIVE: Osteogenesis imperfecta (OI) is a rare genetic disorder. Clinical severity is heterogeneous. The purpose of this study was to investigate the genetic characteristics of a fetus with OI by whole exome sequencing (WES) and identify the cause of the disease. METHODS: In this study, a fetus w...

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Detalles Bibliográficos
Autores principales: Mai, Qiuyan, Han, Ruining, Chen, Yinlong, Shen, Ke, Wang, Shimin, Zheng, Qingliang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10653333/
https://www.ncbi.nlm.nih.gov/pubmed/38027129
http://dx.doi.org/10.3389/fendo.2023.1267252

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10653333/
https://www.ncbi.nlm.nih.gov/pubmed/38027129
http://dx.doi.org/10.3389/fendo.2023.1267252

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