Loss-of-funcation mutations in IGSFI cause an X-linked syndrome of central hypothyroidism and testicular englargement

Y. Sun, B. Bak, N. Schoenmakers, A.S.P. Van Trotsenburg, W. Oostdijk, P. Voshol, E. Cambridge, J.K. White, P. Le Tissier, S.N.M. Gharavy, J.P. Martinez-Barbera, W.H. Stokvis-Brantsma, T. Vulsma, M.J. Kempers, L. Persani, I. Campi, M. Bonomi, P. Beck-Peccoz, Hongdong Zhu, Timothy DavisA.C.S. Hokken-Koelega, D.G. Del Blanco, J. Rangasami, C.A.L. Ruivenkamp, J.F.J. Laros, M. Kriek, S.G. Kant, C.A.J. Bosch, N.R. Biermasz, N.M. Appelman-Dijkstra, E.P. Corssmit, G.C.J. Hovens, A.M. Pereira, J.T. Den Dunnen, M.G. Wade, M.H. Breuning, R.C. Hennekam, K. Chatterjee, M.T. Dattani, M.J. Wit, D.J. Bernard

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    Biochemistry, Genetics and Molecular Biology