Incidental finding of a DMD exons 48–55 deletion during prenatal diagnosis
BackgroundDMD genetic variants cause a spectrum of phenotypes, from severe progressive proximal muscle weakness and degeneration leading to wheelchair dependence and death from cardiac and/or respiratory failure to very mild muscular phenotypes; very rarely, cases are completely asymptomatic. Few ca...
Kaydedildi:
| Asıl Yazarlar: | , , , , , , , , , , , |
|---|---|
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Frontiers Media S.A.
2025-04-01
|
| Seri Bilgileri: | Frontiers in Pediatrics |
| Konular: | |
| Online Erişim: | https://www.frontiersin.org/articles/10.3389/fped.2025.1541468/full |
| Etiketler: |
Etiket eklenmemiş, İlk siz ekleyin!
|