A novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adults.
Chang-Myung OhS ChunJ-E LeeJ S LeeS ParkH Y GeeS W KimPublished in: Clinical genetics (2017)
A novel missense mutation (c.775T>C; p.ser259Pro) in the NROBI gene cause a late-onset adrenal insufficiency without hypogonadism.