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Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene.
Fujieda K, Tajima T, Nakae J, Sageshima S, Tachibana K, Suwa S, Sugawara T, Strauss JF 3rd. Fujieda K, et al. Among authors: tajima t. J Clin Invest. 1997 Mar 15;99(6):1265-71. doi: 10.1172/JCI119284. J Clin Invest. 1997. PMID: 9077535 Free PMC article.
Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia.
Nakae J, Tajima T, Sugawara T, Arakane F, Hanaki K, Hotsubo T, Igarashi N, Igarashi Y, Ishii T, Koda N, Kondo T, Kohno H, Nakagawa Y, Tachibana K, Takeshima Y, Tsubouchi K, Strauss JF 3rd, Fujieda K. Nakae J, et al. Among authors: tajima t. Hum Mol Genet. 1997 Apr;6(4):571-6. doi: 10.1093/hmg/6.4.571. Hum Mol Genet. 1997. PMID: 9097960
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