A Novel ACTB Truncating Variant in a Neonate with ACTB-Related Neurodevelopmental Disorder with Features Overlapping Baraitser-Winter Cerebrofrontofacial Syndrome Diagnosed Using Whole Genome Sequencing: A Case Report
{{output}}
ACTB loss-of-function (LoF) variants cause a pleiotropic neurodevelopmental disorder with overlapping but distinct features compared to classic Baraitser-Winter cerebrofrontofacial syndrome (BW-CFFS), which is typically driven by gain-of-function missense vari... ...
