生殖系统Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
期刊:The Journal of clinical endocrinology and metabolism发表年份:2007作者:Lin Lin; Pascal Philibert; Bruno Ferraz-de-Souza; Daniel Kelberman; Tessa Homfray; Assunta Albanese; Veruska Molini; Neil J Sebire; Silvia Einaudi; Gerard S Conway; Ieuan A Hughes; J Larry Jameson; Charles Sultan; Mehul T Dattani; John C Achermann
