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COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage

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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… Click to show full abstract

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. Herein, we screened COL4A1/COL4A2 and IPD genes in a large series of ICH fetuses.

Keywords: gene variants; col4a1 col4a2; inherited platelet; col4a2; platelet disorder; intracranial hemorrhage

Journal Title: Prenatal Diagnosis
Year Published: 2022

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