Case report: A case of novel homozygous LRBA variant induced by chromosomal segmental uniparental disomy – genetic and clinical insights
ObjectiveThe study aims to report a rare case of a novel homozygous variant in the LRBA gene, originating from uniparental disomy of paternal origin. This case contributes new clinical data to the LRBA gene variant database.MethodsThe study details the…