An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation
ObjectivesHemophilia A (HA) is an X-linked recessive inherited bleeding disorder that typically affects men. Women are usually asymptomatic carriers, and rarely presenting with severe or moderately severe phenotype. This study aims to describe a case of a 17-year-old girl with moderate HA, investiga...
| Auteurs principaux: | , , , , , , , |
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| Format: | Article |
| Langue: | English |
| Publié: |
Frontiers Media S.A.
2025-01-01
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| Collection: | Frontiers in Genetics |
| Sujets: | |
| Accès en ligne: | https://www.frontiersin.org/articles/10.3389/fgene.2024.1500167/full |