Progress in molecular-genetic studies on congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

被引:0
作者
Li-Qiang Zhao
Su Han
Hao-Ming Tian
机构
[1] West China Hospital of Sichuan University,Department of Endocrinology
[2] 4-12,undefined
[3] Xiaojiahe Dongsanxiang No.4,undefined
[4] Gaoxin District,undefined
来源
World Journal of Pediatrics | 2008年 / 4卷
关键词
adrenal hyperplasia; 11β-hydroxylase; molecular genetics;
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    Sudha C. Rao
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    [J]. The Indian Journal of Pediatrics, 2013, 80 : 623 - 630
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    MENZEL, D
    HAUFFA, BP
    [J]. JOURNAL OF CLINICAL ULTRASOUND, 1990, 18 (08) : 619 - 625
  • [33] ADULT HEIGHT AND MENSTRUAL HISTORY AMONG PATIENTS WITH CLASSICAL 21-HYDROXYLASE DEFICIENCY ADRENAL-HYPERPLASIA - CORRELATION WITH GROWTH AND THERAPY DURING DEVELOPMENT
    GSCHWEND, S
    LEE, PA
    [J]. ADOLESCENT AND PEDIATRIC GYNECOLOGY, 1993, 6 (04): : 209 - 213
  • [34] Measuring the structural impact of mutations on cytochrome P450 21A2, the major steroid 21-hydroxylase related to congenital adrenal hyperplasia
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    da Costa, Kaue Santana
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    Soardi, Fernanda C.
    Ostberg, Linus J.
    Persson, Bengt
    de Mello, Maricilda Palandi
    Wedell, Anna
    Lajic, Svetlana
    [J]. CLINICAL ENDOCRINOLOGY, 2015, 82 (01) : 37 - 44
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    TAKAGI, A
    IKEDA, Y
    TSUTSUMI, Z
    SHOJI, T
    YAMAMOTO, A
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 1992, 89 (02) : 581 - 591