Loss-of-function mutations in the immunoglobulin superfamily member 1 gene ( IGSF1 ) cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement Nadia Schoenmakers , Yu Sun , Beata Bak , Asp Van Trotsenburg , W Oostdijk , Peter J Voshol , Emma L Cambridge , Jacqueline K White , P Le Tissier , Snm Gharavy , Juan Pedro Martinezbarbera , W H Stokvisbrantsma , Thomas Vulsma , Marlies J Kempers , Luca Persani , Irene Campi , Marco Bonomi , P Beckpeccoz , Haidong Zhu , Tme Davis , A C Hokkenkoelega , D Gorbenko Del Blanco , J J Rangasami , Cal Ruivenkamp , Jfj Laros , Marjolein Kriek , Sarina G Kant , Caj Bosch , Nienke R Biermasz , Natasha M Appelmandijkstra , , Gcj Hovens , Alberto M Pereira , J T Den Dunnen , Michael G Wade , Martijn H Breuning , Raoul C Hennekam , Mehul T Dattani , J M Wit , D Bernard , Krishna Chatterjee The Lancet（2013）
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