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    The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients

    The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients 由 Sjoerd D. Joustra, Nadia Schoenmakers, Luca Persani, Irene Campi, Marco Bonomi, Giorgio Radetti, P. Beck‐Peccoz, Hongdong Zhu, Timothy M. E. Davis, Yu Sun, Eleonora P.M. Corssmit, Natasha M. Appelman‐Dijkstra, Charlotte A. Heinen, Alberto M. Pereira, Aimee J. Varewijck, J. A. M. J. L. Janssen, Erik Endert, Raoul C. M. Hennekam, Maria Lombardi, Marcel M.A.M. Mannens, Beata Bąk, Daniel J. Bernard, M.H. Breuning, Krishna Chatterjee, Mehul Dattani, Wilma Oostdijk, Nienke R. Biermasz, Jan M. Wit, A.S. Paul van Trotsenburg

    出版 2013
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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 由 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

    出版 2012
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