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., Trotsenburg, A.S.P. van, Oostdijk, W., Voshol, P., Cambridge, E., White, J.K., Tissier, P. le, Gharavy, S.N.M., Martinez-Barbera, J.P., Stokvis-Brantsma, W.H., Vulsma, T., Kempers, M.J., Persani, L., Campi, I., Bonomi, M., Beck-Peccoz, P., Zhu, H., Davis, T.M.E., Hokken-Koelega, A.C.S., Blanco, D.G. del, Rangasami, J.J., Ruivenkamp, C.A.L., Laros, J.F.J., Kriek, M., Kant, S.G., Bosch, C.A.J., Biermasz, N.R., Appelman-Dijkstra, N.M., Corssmit, E.P., Hovens, G.C.J., Pereira, A.M., Dunnen, J.T. den, Wade, M.G., Breuning, M.H., Hennekam, R.C., Dattani, M.T., Wit, J.M., Bernard, D.J., Chatterjee, K. |
|---|---|
| Přispěvatelé: | Pediatrics |
| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Zdroj: | Lancet (UK), 381, 15-15. Elsevier Ltd. ResearcherID Lancet, 381, 15-15 |
| ISSN: | 0140-6736 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|