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...
Tallennettuna:
| Päätekijät: | , , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BMC
2026-04-01
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| Sarja: | Human Genomics |
| Aiheet: | |
| Linkit: | https://doi.org/10.1186/s40246-026-00955-6 |
| Tagit: |
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