Article
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage.
Prenatal diagnosis - 1 May 2022
Coste Thibault, Vincent-Delorme Catherine, Stichelbout Morgane, Devisme Louise, Gelot Antoinette, Deryabin Igor, Pelluard Fanny, Aloui Chaker, Leutenegger Anne-Louise, Jouannic Jean-Marie, Héron Delphine, Gould Douglas B, Tournier-Lasserve Elisabeth
Abstract excerpt
BACKGROUND: Variants of COL4A1/COL4A2 genes have been reported in fetal intracranial hemorrhage (ICH) cases but their prevalence and characteristics have not been established in a large series of fetuses. Fetal neonatal alloimmune thrombocytopenia is a major acquired ICH factor but the prevalence and characteristics of inherited platelet disorder (IPD) gene variants leading to thrombocytopenia are unknown....
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