Spectrum of 21-Hydroxylase (CYP21) Gene Mutation and Genotype-Phenotype Correlation in Patients with Congenital Adrenal Hyperplasia (CAH 21OHD)

被引：0
|
作者：
Diwakar, Kumar
Rao, Sudha
Dubey, Sudisha
机构：
来源：
HORMONE RESEARCH | 2008年 / 70卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：12 / 12
页数：1
相关论文
共 50 条
  • [41] RESTRICTION MAPPING OF 21-HYDROXYLASE (21-OH) GENES IN CONGENITAL ADRENAL-HYPERPLASIA (CAH)
    MOREL, Y
    AUVINET, M
    GOETZ, J
    HAUPTMANN, G
    BETUEL, H
    DAVID, M
    ANDRE, J
    [J]. PEDIATRIC RESEARCH, 1986, 20 (11) : 1200 - 1200
  • [42] Characterization of 8 Point Mutations in the Cyp21b Gene in Brazilian Patients With Congenital Adrenal Hyperplasia (Cah) Due To 21-Hydroxylase Deficiency 31
    T AS Bachega
    A E C Billerbeck
    G Madureira
    I J P Amhold
    J A M Marcondes
    C A Longui
    M A Medeiros
    W Bloise
    W Nicolau
    B B Mendonça
    [J]. Pediatric Research, 1998, 43 (2) : 300 - 300
  • [43] 21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations
    Wang, Ruifang
    Yu, Yongguo
    Ye, Jun
    Han, Lianshu
    Qiu, Wenjuan
    Zhang, Huiwen
    Liang, Lili
    Gong, Zhuwen
    Wang, Lili
    Gu, Xuefan
    [J]. STEROIDS, 2016, 108 : 47 - 55
  • [44] Analysis of CYP21A2 gene mutation and phenotype in patients with 21-hydroxylase deficiency
    舒剑波
    [J]. China Medical Abstracts (Internal Medicine), 2019, 36 (02) : 83 - 83
  • [45] 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia
    Shaw, Amy M.
    [J]. NEONATAL NETWORK, 2010, 29 (03): : 191 - 196
  • [46] DELETION OF THE 21-HYDROXYLASE GENE IN CONGENITAL ADRENAL-HYPERPLASIA
    RUMSBY, G
    GRANT, DB
    [J]. PEDIATRIC RESEARCH, 1986, 20 (11) : 1200 - 1200
  • [47] Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Deneux, C
    Tardy, V
    Dib, A
    Mornet, E
    Billaud, L
    Charron, D
    Morel, Y
    Kuttenn, F
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2001, 86 (01): : 207 - 213
  • [48] A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance
    Khattab, Ahmed
    Yuen, Tony
    Al-Malki, Sultan
    Yau, Mabel
    Kazmi, Diya
    Sun, Li
    Harbison, Madeleine
    Haider, Shozeb
    Zaidi, Mone
    New, Maria I.
    [J]. MARROW, 2016, 1364 : 5 - 10
  • [49] Analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency
    Lee, HH
    Chang, JG
    Tsai, CH
    Tsai, FJ
    Chao, HT
    Chung, BC
    [J]. CLINICAL CHEMISTRY, 2000, 46 (05) : 606 - 611
  • [50] Genotyping CYP21 of Newborns for Congenital Adrenal Hyperplasia
    Naznin Dixit
    Jodene Fitness
    Dianne Webster
    Toni Torresani
    Robert Pergolizzi
    Darren J Day
    Phyllis W Speiser
    [J]. Pediatric Research, 1999, 45 : 88 - 88
12345