Researchers identified a novel homozygous KDM5A variant linked to severe axial hypotonia, seizures, and cardiac anomalies. This discovery enhances understanding of the genetic underpinnings of these conditions.
identification and characterisation of a novel homozygous kdm5a variant associated with severe axial hypotonia seizures and cardiac anomalies
Original title: “Identification and characterisation of a novel homozygous KDM5A variant associated with severe axial hypotonia, seizures, and cardiac anomalies.”