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Genetic causes of human reproductive disease.
Achermann JC, Ozisik G, Meeks JJ, Jameson JL. Achermann JC, et al. Among authors: jameson jl. J Clin Endocrinol Metab. 2002 Jun;87(6):2447-54. doi: 10.1210/jcem.87.6.8622. J Clin Endocrinol Metab. 2002. PMID: 12050198 Free article. Review. No abstract available.
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, Homfray T, Albanese A, Molini V, Sebire NJ, Einaudi S, Conway GS, Hughes IA, Jameson JL, Sultan C, Dattani MT, Achermann JC. Lin L, et al. Among authors: jameson jl. J Clin Endocrinol Metab. 2007 Mar;92(3):991-9. doi: 10.1210/jc.2006-1672. Epub 2007 Jan 2. J Clin Endocrinol Metab. 2007. PMID: 17200175 Free PMC article.
271 results