Expanding the Clinical Spectrum of Arboleda-Tham Syndrome: Neuroimaging Findings and Hematologic Manifestations
{{output}}
Background and objectives: Arboleda-Tham syndrome (ARTHS) is a rare autosomal dominant neurodevelopmental disorder caused by pathogenic variants in the lysine acetyltransferase 6A (KAT6A) gene, characterized by global development... ...
