Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1 ) are associated with 46,XY disorders of sex sevelopment with normal adrenal function - Lin, L; Philibert, P; Ferraz-de-Souza, B; Kelberman, D; Homfray, T; Albanese, A; Molini, V; Sebire, N J; Einaudi, S; Conway, G S; Hughes, I A; Jameson, J L; Sultan, C; Dattani, M T; Achermann, J C (J Clin Endocrinol Metab, 2007)