Congenital adrenal hyperplasia in a Nigerian child with a novel compound heterozygote mutation in CYP11B1

被引：7
|
作者：
Andrew, M.
Barr, M.
Davies, E.
Wallace, A. M.
Connell, J. M.
Ahmed, S. F. [1 ]
机构：
[1] Royal Hosp Sick Children, Dept Child Hlth, Bone & Endocrine Res Grp, Glasgow G3 8SJ, Lanark, Scotland
[2] Glasgow Cardiovasc Res Ctr, MRC, Blood Pressure Grp, Glasgow, Lanark, Scotland
[3] Glasgow Royal Infirm, Dept Clin Biochem, Glasgow G4 0SF, Lanark, Scotland
来源：
CLINICAL ENDOCRINOLOGY | 2007年 / 66卷 / 04期
关键词：
D O I：
10.1111/j.1365-2265.2007.02766.x
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：602 / 603
页数：2
相关论文
共 50 条
  • [1] Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants
    I. Fylaktou
    P. Smyrnaki
    A. Sertedaki
    M. Dracopoulou
    Ch. Kanaka-Gantenbein
    [J]. Hormones, 2022, 21 : 155 - 161
  • [2] Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants
    Fylaktou, I
    Smyrnaki, P.
    Sertedaki, A.
    Dracopoulou, M.
    Kanaka-Gantenbein, Ch
    [J]. HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM, 2022, 21 (01): : 155 - 161
  • [3] A novel mutation in the CYP11B1 gene causes late-onset congenital adrenal hyperplasia
    Akin, Leyla
    Ilguy, Muge
    Yilmaz, Aysegul
    Aydin, Murat
    [J]. SEXUAL DEVELOPMENT, 2024, 17 : 118 - 118
  • [4] Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews
    Paperna, T
    Gershoni-Baruch, R
    Badarneh, K
    Kasinetz, L
    Hochberg, Z
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2005, 90 (09): : 5463 - 5465
  • [5] Cyp11b1 Null Mouse, a Model of Congenital Adrenal Hyperplasia
    Mullins, Linda J.
    Peter, Audrey
    Wrobel, Nicola
    McNeilly, Judith R.
    McNeilly, Alan S.
    Al-Dujaili, Emad A. S.
    Brownstein, David G.
    Mullins, John J.
    Kenyon, Christopher J.
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2009, 284 (06) : 3925 - 3934
  • [6] A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy
    Alqahtani, Mohammad A.
    Shati, Ayed A.
    Zou, Minjing
    Alsuheel, Ali M.
    Alhayani, Abdullah A.
    Al-Qahtani, Saleh M.
    Gilban, Hessa M.
    Meyer, Brain F.
    Shi, Yufei
    [J]. INTERNATIONAL JOURNAL OF ENDOCRINOLOGY, 2015, 2015
  • [7] A novel nonsense mutation in the CYP11B1 gene from a subject with the steroid 11β-hydroxylase form of congenital adrenal hyperplasia
    Kuribayashi, I
    Massa, G
    van den Tooren-de Groot, HK
    Oostdijk, W
    Wit, JM
    Shizuta, Y
    [J]. ENDOCRINE RESEARCH, 2003, 29 (04) : 377 - 381
  • [8] Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency
    Merke, DP
    Tajima, T
    Chhabra, A
    Barnes, K
    Mancilla, E
    Baron, J
    Cutler, GB
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1998, 83 (01): : 270 - 273
  • [9] Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews.
    Paperna, TY
    Kasinetz, L
    Hochberg, Z
    Gershoni-Baruch, R
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 296 - 296
  • [10] Cosegregation of a novel homozygous CYP11B1 mutation with the phenotype of non-classical congenital adrenal hyperplasia in a consanguineous family
    Peters, C. J.
    Nugent, T.
    Perry, L. A.
    Davies, K.
    Morel, Y.
    Drake, W. M.
    Savage, M. O.
    Johnston, L. B.
    [J]. HORMONE RESEARCH, 2007, 67 (04) : 189 - 193
12345