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17A-Hydroxylase/17,20-Lyase Deficiency

Clinical and genetic analysis for two Chinese siblings with 17α-hydroxylase/17,20-lyase deficiency

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Pages 455-459 | Received 22 Dec 2010, Accepted 10 Oct 2011, Published online: 21 Nov 2011

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Mengte Shi, Xiaojun Chen, Qi Zhou & Feixia Shen. (2014) Clinical and genetic analyses of a Chinese female with 17α-hydroxylase/17,20-lyase deficiency. Gynecological Endocrinology 30:12, pages 890-893.
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Articles from other publishers (3)

William E. Winter, Paul Hiers & Dina N. Greene. 2021. Handbook of Diagnostic Endocrinology. Handbook of Diagnostic Endocrinology 581 638 .
Núria Camats, Ala Üstyol, Mehmet Emre Atabek, Bernhard Dick & Christa E. Flück. (2015) A novel CYP 17 A 1 deletion causes a functional knockout of the steroid enzyme 17‐hydroxylase and 17,20‐lyase in a T urkish family and illustrates the precise role of the CYP 17 A 1 gene . Clinical Case Reports 3:10, pages 793-797.
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Yoo-Mi Kim, Minji Kang, Jin-Ho Choi, Beom Hee Lee, Gu-Hwan Kim, Jung Hun Ohn, Seong Yeon Kim, Moon Soo Park & Han-Wook Yoo. (2014) A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation. Metabolism 63:1, pages 42-49.
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