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

Yu Sun(Leiden University Medical Center), Beata Bąk(McGill University), Nadia Schoenmakers(University of Cambridge), A S Paul van Trotsenburg(Amsterdam UMC Location University of Amsterdam), Wilma Oostdijk(Leiden University Medical Center), Peter J. Voshol(University of Cambridge), Emma L. Cambridge(Wellcome Sanger Institute), Jacqueline K. White(Wellcome Sanger Institute), Paul Le Tissier(The Francis Crick Institute), S. Neda Mousavy Gharavy(University College London), Juan Pedro Martı́nez-Barberá(University College London), Wilhelmina H. Stokvis‐Brantsma(Leiden University Medical Center), Thomas Vulsma(Amsterdam UMC Location University of Amsterdam), Marlies Kempers(Radboud University Nijmegen), Luca Persani(University of Milan), Irene Campi(University of Milan), Marco Bonomi(IRCCS Istituto Auxologico Italiano), Paolo Beck‐Peccoz(University of Milan), Hongdong Zhu(The University of Western Australia), Timothy M. E. Davis(The University of Western Australia), Anita Hokken-Koelega(Erasmus MC - Sophia Children’s Hospital), Darya Gorbenko del Blanco(Erasmus MC - Sophia Children’s Hospital), Jayanti Rangasami(West Middlesex University Hospital), Claudia Ruivenkamp(Leiden University Medical Center), Jeroen F. J. Laros(Leiden University Medical Center), Marjolein Kriek(Leiden University Medical Center), Sarina G. Kant(Leiden University Medical Center), Cathy A.J. Bosch(Leiden University Medical Center), Nienke R. Biermasz(Leiden University Medical Center), Natasha M. Appelman‐Dijkstra(Leiden University Medical Center), Eleonora P.M. Corssmit(Leiden University Medical Center), Guido C. Hovens(Leiden University Medical Center), Alberto M. Pereira(Leiden University Medical Center), Johan T. den Dunnen(Leiden University Medical Center), Michael G. Wade(Health Canada), Martijn H. Breuning(Leiden University Medical Center), Raoul C. M. Hennekam(Amsterdam UMC Location University of Amsterdam), Krishna Chatterjee(University of Cambridge), Mehul Dattani(University College London), Jan M. Wit(Leiden University Medical Center), Daniel J. Bernard(McGill University)
Nature Genetics
November 11, 2012
Cited by 215Open Access
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