Loss-of-function mutations in the immunoglobulin superfamily member 1 gene (IGSF1) cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement

Author(s):: Schoenmakers, N.; Sun, Y.; Bak, B.; Trotsenburg, A.S.P. van; Oostdijk, W. (0000-0003-0180-2470); Voshol, P.; Cambridge, E.; White, J.K.; Tissier, P. le; Gharavy, S.N.M.; Martinez-Barbera, J.P.; Stokvis-Brantsma, W.H.; Vulsma, T.; Kempers, M.J.; Persani, L.; Campi, I.; Bonomi, M.; Beck-Peccoz, P.; Zhu, H.; Davis, T.M.E.; Hokken-Koelega, A.C.S.; Blanco, D.G. del; Rangasami, J.J.; Ruivenkamp, C.A.L.; Laros, J.F.J.; Kriek, M.; Kant, S.G.; Bosch, C.A.J.; Biermasz, N.R. (0000-0001-5817-3594); Appelman-Dijkstra, N.M.; Corssmit, E.P.; Hovens, G.C.J.; Pereira, A.M.; Dunnen, J.T. den (0000-0002-6304-1710); Wade, M.G.; Breuning, M.H. (0000-0002-8212-4319); Hennekam, R.C.; Dattani, M.T.; Wit, J.M.; Bernard, D.J.; Chatterjee, K.