A novel SETD2 frameshift variant has been identified in patients with Luscan-Lumish syndrome, highlighting its endocrine manifestations. This discovery may enhance understanding of the syndrome's pathology and inform future research.
endocrine manifestations of luscan lumish syndrome associated with a novel setd2 frameshift variant
Original title: “Endocrine manifestations of Luscan-Lumish syndrome associated with a novel SETD2 frameshift variant.”