Unusual variants in NDUFAF6-associated mitochondrial disease
A 6-year-old female with global developmental delay, chronic kidney disease (stage III), and renal tubular dysfunction was evaluated in the National Institutes of Health Undiagnosed Diseases Program. Although exome sequencing did not yield a diagnosis, family genome sequencing revealed biallelic var...
Furkejuvvon:
| Váldodahkkit: | , , , , , , , , , , , |
|---|---|
| Materiálatiipa: | Artigo |
| Giella: | Inglês |
| Almmustuhtton: |
Elsevier
2026-01-01
|
| Ráidu: | Rare |
| Fáttát: | |
| Liŋkkat: | http://www.sciencedirect.com/science/article/pii/S295000872600013X |
| Fáddágilkorat: |
Eai fáddágilkorat, Lasit vuosttaš fáddágilkora!
|