The lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newborns
Neurogenetics. 2024 Jul 24. doi: 10.1007/s10048-024-00775-7. Online ahead of print. ABSTRACT FARIMPD (Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies) syndrome is a severe …