Publication
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement
Nienke R Biermasz, Natasha M Appelman-Dijkstra, Eleonora P Corssmit, Guido C J Hovens, Alberto M Pereira, Johan T den Dunnen, Michael G Wade, Martijn H Breuning, Raoul C Hennekam, Krishna Chatterjee, Mehul T Dattani, Jan M Wit, Daniel J Bernard, Yu Sun, Beata Bak, Nadia Schoenmakers, A S Paul van Trotsenburg, Wilma Oostdijk, Peter Voshol, Emma Cambridge, Jacqueline K White, Paul le Tissier, S Neda Mousavy Gharavy, Juan P Martinez-Barbera, Wilhelmina H Stokvis-Brantsma, Thomas Vulsma, Marlies J Kempers, Luca Persani, Irene Campi, Marco Bonomi, Paolo Beck-Peccoz, Hongdong Zhu, Timothy M E Davis, Anita C S Hokken-Koelega, Daria Gorbenko Del Blanco, Jayanti J Rangasami, Claudia A L Ruivenkamp, Jeroen F J Laros, Marjolein Kriek, Sarina G Kant, Cathy A J Bosch
Nature Genetics, November 2012, Nature
DOI: 10.1038/ng.2453