Article
Fetal cerebral hemorrhage due to X-linked GATA1 gene mutation.
Prenatal diagnosis - 1 Sept 2018
Bouchghoul Hanane, Quelin Chloé, Loget Philippe, Encha-Razavi Féréchté, Senat Marie-Victoire, Maheut Lorraine, Galimand Julie, Collardeau-Frachon Sophie, Da Costa Lydie, Martinovic Jelena
Abstract excerpt
We report a multiplex family with a GATA1 gene mutation responsible for a massive fetal cerebral hemorrhage occurring at 36 weeks. Two other stillbirth cousins presented with fetal hydrops and congenital hemochromatosis' phenotype at 37 and 12 weeks of gestation. Molecular screening revealed the presence of a c.613G>A pathogenic allelic variation in exon 4 of GATA1 gene in the 3 male siblings and their carrier...
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