rare disease, undiagnosed, MAPK8IP3, gene variant
A personal account from a mother’s perspective on her undiagnosed son’s medical journey over almost 6 years toward a diagnosis of a rare genetic variant in mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3) resulting in neurodevelopment disorder.
Jones AM. In pursuit: a mother’s account of her son’s rare disease diagnosis journey. J Patient Cent Res Rev. 2021;8:360-2. doi: 10.17294/2330-0698.1845
January 25th, 2021
April 12th, 2021