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...
| 主要な著者: | , , , , , |
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| フォーマット: | 論文 |
| 言語: | English |
| 出版事項: |
Frontiers Media S.A.
2023-11-01
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| シリーズ: | Frontiers in Endocrinology |
| 主題: | |
| オンライン･アクセス: | https://www.frontiersin.org/articles/10.3389/fendo.2023.1267252/full |