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Conte FA, Greenbach MM, Ito Y, Fisher CR, Simpson ER: A syndrome of female pseudohermaphroditism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom). J Clin Endocrinol Metab 1994, 78:1287-1292.
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Morishima A, Grumbach MM, Simpson ER, Fisher C, Qin K: Aromatase deficiency in male and female siblings caused by a novel mutation in the physiological role of estrogen. J Clin Endocrinol Metab 1995, 80:3689-3698. This report of a novel mutation in the aromatase gene involves a brother and sister. The medical history of the sister is similar to that of the patient reported by Conte et al. (J Clin Endocrinol Metab 1994, 78:1287-1292). The brother's lack of skeletal maturity, continued growth, and tall stature are features similar to those of the male with estrogen-receptor defect. Another model of similar features verifies the role of estrogen in growth.
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