Aromatase excess syndrome
Definition:
References:
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[1]. Maki Fukami, et al. Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants. J Clin Endocrinol Metab. 2011 Jun;96(6):E1035-43. [Content Brief]
[2]. Makio Shozu, et al. Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene. N Engl J Med. 2003 May 8;348(19):1855-65. [Content Brief]
[3]. Masashi Demura, et al. Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene. Hum Mol Genet. 2007 Nov 1;16(21):2529-41. [Content Brief]
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