Author:
García-Malpartida Katherine,Gómez-Balaguer Marcelino,Solá-Izquierdo Eva,Fuentes-Pardilla M. José,Jover-Fernández Ana,Sanz-Ruiz Isabel,Hernández-Mijares Antonio
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Reference22 articles.
1. D.I. Shulman, M.R. Palmert, S.F. Kemp, Lawson Wilkins Drug and Therapeutics Committee, Adrenal insufficiency: still a cause of morbidity and death in childhood. Pediatrics 119, 484–494 (2007)
2. F. Muscatelli, T.M. Strom, A.P. Walker, E. Zanaria, D. Récan, A. Meindl, B. Bardoni, S. Guioli, G. Zehetner, W. Rabl, H.P. Schwarz, J.C. Kaplan, G. Camerino, T. Meitinger, A.P. Monaco, Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 372, 672–676 (1994)
3. J.K. Phelan, E.R. McCabe, Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita. Hum. Mutat. 18, 472–487 (2001)
4. R.L. Habiby, P. Boepple, L. Nachtigall, P.M. Sluss, W.F. Crowley Jr, J.L. Jameson, Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production. J. Clin. Invest. 98, 1055–1062 (1996)
5. A.T. Reutens, J.C. Achermann, M. Ito, M. Ito, W.X. Gu, R.L. Habiby, P.A. Donohoue, S. Panq, P.C. Hindmarsh, J.L. Jameson, Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. J. Clin. Endocrinol. Metab. 84, 504–511 (1999)
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