Multigenerational evidence of X-linked adrenal hypoplasia congenita due to a novel NR0B1 frameshift
Abstract Backgroud Pathogenic NR0B1 variants, encoding DAX-1, are a major cause of X-linked adrenal hypoplasia congenita (AHC), yet genotype–phenotype variability persists. Results In a Chinese four-generation pedigree, two affected males carried a novel NR0B1 frameshift, c.573_576dup4 (p.T193Gfs*13...
Zapisane w:
| Główni autorzy: | , , , |
|---|---|
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BMC
2026-04-01
|
| Seria: | Human Genomics |
| Hasła przedmiotowe: | |
| Dostęp online: | https://doi.org/10.1186/s40246-026-00955-6 |
| Etykiety: |
Nie ma etykietki, Dołącz pierwszą etykiete!
|