Loss-of-function mutations in the immunoglobulin superfamily member 1 gene (IGSF1) cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement
Titel:
Loss-of-function mutations in the immunoglobulin superfamily member 1 gene (IGSF1) cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement
Auteur:
Schoenmakers, N Sun, Y Bak, B van Trotsenburg, ASP Oostdijk, W Voshol, P Cambridge, E White, JK le Tissier, P Gharavy, SNM Martinez-Barbera, JP Stokvis-Brantsma, WH Vulsma, T Kempers, MJ Persani, L Campi, I Bonomi, M Beck-Peccoz, P Zhu, H Davis, TME Hokken-Koelega, ACS Del Blanco, D Gorbenko Rangasami, JJ Ruivenkamp, CAL Laros, JFJ Kriek, M Kant, SG Bosch, CAJ Biermasz, NR Appelman-Dijkstra, NM Corssmit, EP Hovens, GCJ Pereira, AM den Dunnen, JT Wade, MG Breuning, MH Hennekam, RC Dattani, MT Wit, JM Bernard, DJ Chatterjee, K