ロード中...
Apert syndrome: prenatal diagnosis challenge
Apert syndrome is a rare genetic disorder that manifests as craniosynostosis, craniofacial and limb dysmorphic features. Mutations in fibroblast growth factor receptor 2 (FGFR2) gene account for almost all cases. Given the impact it can have throughout life, prenatal management becomes a challenge....
保存先:
| 出版年: | BMJ Case Rep |
|---|---|
| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Publishing Group
2019
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6904201/ https://ncbi.nlm.nih.gov/pubmed/31822532 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2019-231982 |
| タグ: |
タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!
|