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

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

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Bibliographic Details
Main Authors: Yu Sun, Beata Bąk, Nadia Schoenmakers, A.S. Paul van Trotsenburg, Wilma Oostdijk, Peter J. Voshol, Emma L. Cambridge, Jacqueline K. White, Paul Le Tissier, S. Neda Mousavy Gharavy, Juan Pedro Martı́nez-Barberá, Wilhelmina H. Stokvis‐Brantsma, Thomas Vulsma, Marlies Kempers, Luca Persani, Irene Campi, Marco Bonomi, Paolo Beck‐Peccoz, Hongdong Zhu, Timothy M. E. Davis, Anita Hokken-Koelega, Darya Gorbenko del Blanco, Jayanti Rangasami, Claudia Ruivenkamp, Jeroen F. J. Laros, Marjolein Kriek, Sarina G. Kant, Cathy A.J. Bosch, Nienke R. Biermasz, Natasha M. Appelman‐Dijkstra, Eleonora P.M. Corssmit, Guido C. Hovens, Alberto M. Pereira, Johan T. den Dunnen, Michael G. Wade, Martijn H. Breuning, Raoul C. M. Hennekam, Krishna Chatterjee, Mehul Dattani, Jan M. Wit, Daniel J. Bernard
Format: Artigo
Language:English
Published: 2012
Online Access:https://doi.org/10.1038/ng.2453
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Internet

https://doi.org/10.1038/ng.2453

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