Aromatase deficiency
Definition:
References:
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[1]. Emine Kartal Baykan, et al. Aromatase deficiency, a rare syndrome: case report. J Clin Res Pediatr Endocrinol. 2013;5(2):129-32. [Content Brief]
[2]. P E Mullis, et al. Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood. J Clin Endocrinol Metab. 1997 Jun;82(6):1739-45. [Content Brief]
[3]. Y Ito, et al. Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. Proc Natl Acad Sci U S A. 1993 Dec 15;90(24):11673-7. [Content Brief]
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