Case Report: A novel de novo variant of COL1A1 in fetal genetic osteogenesis imperfecta
ObjectiveOsteogenesis 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.MethodsIn this study, a fetus with o...
Na minha lista:
| Principais autores: | , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2023-11-01
|
| coleção: | Frontiers in Endocrinology |
| Assuntos: | |
| Acesso em linha: | https://www.frontiersin.org/articles/10.3389/fendo.2023.1267252/full |
| Tags: |
Sem tags, seja o primeiro a adicionar uma tag!
|