Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome (2002)
Rotman-Pikielny, Pnina, Hirschberg, Koret, Maruvada, Padma, Suzuki, Koichi, Royaux, Ines E., Green, Eric D., ...
Pendred syndrome is a major cause of congenital deafness, goiter and defective iodide organification. Mutations in the transmembrane protein, pendrin, cause diminished export of iodide from thyroid...