Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

Y Sun, B Bak, N Schoenmakers, ASP van Trotsenburg, W (Wilma) Oostdijk, P Voshol, E Cambridge, JK White, P le Tissier, SNM Gharavy, JP Martinez-Barbera, WH Stokvis-Brantsma, T Vulsma, MJ Kempers, L Persani, I Campi, M Bonomi, P Beck-Peccoz, H Zhu, TME DavisAnita Hokken - Koelega, Darya Gorbenko del Blanco, J Rangasami, CAL Ruivenkamp, JFJ Laros, M Kriek, CAJ Bosch, NR Biermasz, NM Appelman-Dijkstra, EP Corssmit, GC Hovens, AM Pereira, JT Dunnen, M Wade, MH Breuning, RCM Hennekam, K Chatterjee, M Dattani, JM Wit, DJ Bernard

Research output: Contribution to journalArticleAcademicpeer-review

144 Citations (Scopus)
Original languageUndefined/Unknown
Pages (from-to)1375
JournalNature Genetics
Volume44
Issue number12
DOIs
Publication statusPublished - 2012

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