COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6113
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… read more here.
Keywords: gene variants; col4a1 col4a2; inherited platelet; col4a2 ... See more keywords
Novel COL4A2 mutation causing familial malformations of cortical development.
Sign Up to like & getrecommendations! Published in 2021 at "European review for medical and pharmacological sciences"
DOI: 10.26355/eurrev_202101_24658
Abstract: OBJECTIVE This article aimed to describe a novel COL4A2 mutation and the phenotypic features of two family members presenting with epilepsy and cortical development malformations. PATIENTS AND METHODS The first patient is a 65-year-old woman… read more here.
Keywords: novel col4a2; cortical development; col4a2; col4a2 mutation ... See more keywords