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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....
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| Veröffentlicht in: | BMJ Case Rep |
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| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMJ Publishing Group
2019
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| Schlagworte: | |
| Online Zugang: | 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 |
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