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

Schoenmakers, N.; Sun, Y.; Bak, B.; Trotsenburg, A.S.P. van; Oostdijk, W.; Voshol, P.; ... ; Chatterjee, K. (2013)

Article / Letter to editor

• All authors: Schoenmakers, N.; Sun, Y.; Bak, B.; Trotsenburg, A.S.P. van; Oostdijk, W.; 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.; Appelman-Dijkstra, N.M.; Corssmit, E.P.; Hovens, G.C.J.; Pereira, A.M.; Dunnen, J.T. den; Wade, M.G.; Breuning, M.H.; Hennekam, R.C.; Dattani, M.T.; Wit, J.M.; Bernard, D.J.; Chatterjee, K.
• Date: 2013-02-27
• Journal: Lancet
• Volume: 381
• Pages: 15 - 15