Novel Genetic Variant in HUWE1 : Prenatal and Postnatal Neuroimaging Phenotype.
Mario TortoraElisa CattaneoLuigina SpacciniMaria IasconeBarbara ScelsaAlessia MicalizziAntonio NovelliMariano LannaAndrea RighiniPierangelo VeggiottiChiara DonedaPublished in: Neurology. Genetics (2024)
gene affects nervous system are still largely unclear, but a growing body of literature described disease-causing variants in this gene. This report may help prenatal diagnostic experts in consider also this entity, especially when dealing with pontine and cerebellar hypoplasia findings.