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
Further refinement of COL4A1 and COL4A2 related cortical malformations.
Sign Up to like & getrecommendations! Published in 2018 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.10.004
Abstract: Mutations in COL4A1 have been reported in schizencephaly and porencephaly combined with microbleeds or calcifications, often associated with ocular and renal abnormalities, myopathy, elevated creatine kinase levels and haemolytic anaemia. In this study, we aimed… read more here.
Keywords: col4a1 col4a2; col4a1 mutations; cortical malformations; refinement col4a1 ... See more keywords