Case Report: Novel Mutation of F5 With Maternal Uniparental Disomy Causes Severe Congenital Factor V Deficiency

We summarized two cases of congenital factor V deficiency (FVD) associated with a novel F5 mutation, and analyzed the relationship of the clinical features and genetic characteristics in congenital FVD. Case 1 was a female newborn infant with remarkable bleeding who died of severe intracranial hemor...

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Detalles Bibliográficos
Autores principales: Cheng, Lin, Li, Ying, Zhou, Wenjuan, Bo, Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9211043/
https://www.ncbi.nlm.nih.gov/pubmed/35747490
http://dx.doi.org/10.3389/fped.2022.913050

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9211043/
https://www.ncbi.nlm.nih.gov/pubmed/35747490
http://dx.doi.org/10.3389/fped.2022.913050

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