A novel variant linked to enteroendocrine hormone deficiency has been identified in a patient with PERCC1-associated enteropathy, providing new diagnostic and therapeutic insights. This discovery may enhance understanding and treatment options for this rare condition.
novel variant and enteroendocrine hormone deficiency in a patient with proline and glutamate rich protein with a coiled coil domain 1 percc1 associated enteropathy new diagnostic and therapeutic insights
Original title: “Novel variant and enteroendocrine hormone deficiency in a patient with proline and glutamate-rich protein with a coiled coil domain 1 (PERCC1) associated enteropathy: New diagnostic and therapeutic insights.”