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Autor: Arends, Nicolette, Boonstra, VH, Mulder, PGH (Paul), Odink, RJH, Stokvis-Brantsma, WH, Rongen-Westerlaken, C, Mulder, JC, Delemarre - van de Waal, H, Reeser, HM, Jansen, M, Waelkens, JJJ, Hokken - Koelega, Anita

Publikováno v: Clinical Endocrinology, 59, 779-787. Wiley-Blackwell Publishing Ltd

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::a45425a3e9caabb4f89f9a2b704edaf0
https://pure.eur.nl/en/publications/1c64f703-3078-4521-9603-339e7d671545

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Loss-of-function mutations in the immunoglobulin superfamily member 1 gene (IGSF1) cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement

Autor: Schoenmakers, N, Sun, Y, Bak, B, van Trotsenburg, ASP, Oostdijk, W, Voshol, P, Cambridge, E, White, JK, le Tissier, P, Gharavy, SNM, Martinez-Barbera, JP, Stokvis-Brantsma, WH, Vulsma, T, Kempers, MJ, Persani, L, Campi, I, Bonomi, M, Beck-Peccoz, P, Zhu, H, Davis, TME, Hokken-Koelega, ACS, Del Blanco, D Gorbenko, Rangasami, JJ, Ruivenkamp, CAL, Laros, JFJ, Kriek, M, Kant, SG, Bosch, CAJ, Biermasz, NR, Appelman-Dijkstra, NM, Corssmit, EP, Hovens, GCJ, Pereira, AM, den Dunnen, JT, Wade, MG, Breuning, MH, Hennekam, RC, Dattani, MT, Wit, JM, Bernard, DJ, Chatterjee, K

Publikováno v: The Lancet; February 2013, Vol. 381 Issue: 6 pS15-S15, 1p

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

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Publikováno v: Nature genetics [Nat Genet] 2012 Dec; Vol. 44 (12), pp. 1375-81. Date of Electronic Publication: 2012 Nov 11.