Genetic analysis of an asymptomatic female with a large Xp deletion revealed insights into the X chromosome inactivation pattern: a case report
Abstract Background X-linked disorders caused by skewed X chromosome inactivation (XCI) result in phenotypic heterogeneity, which is rarely reported. XCI testing is not widely used in clinical cases, making risk assessment for carriers of X-linked unbalanced structural abnormalities challenging. Cas...
Guardat en:
| Autors principals: | , , , , |
|---|---|
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMC
2025-09-01
|
| Col·lecció: | Molecular Cytogenetics |
| Matèries: | |
| Accés en línia: | https://doi.org/10.1186/s13039-025-00729-0 |
| Etiquetes: |
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|