Deficiencia del factor XIII debido a la heterocigosidad compuesta para 2 variantes de F13A1
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Ver abstracta en PubMed
Resumen
Este resumen es generado por máquina.Los estudios genómicos son vitales para el diagnóstico de la deficiencia del Factor XIII (FXIII), un trastorno hemorrágico raro. Este caso destaca cómo el análisis genético identificó con precisión las variantes causantes en un niño con deficiencia severa de FXIII.
Área De La Ciencia
- Hematología
- La genética
- Enfermedades raras
Sus Antecedentes
- La deficiencia del factor (F) XIII es un trastorno hereditario poco frecuente.
- El diagnóstico preciso se basa tanto en ensayos bioquímicos como en estudios genómicos.
- Los enfoques genómicos ofrecen conocimientos diagnósticos y clínicos críticos.
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