A novel mutation in the CYP11B1 gene in a patient with 11β-hydroxylase deficiency

被引:0
|
作者
Motaghedi, R
Slowinska, B
Cerami, B
Cabrera, M
New, MI
Wilson, RC
机构
[1] New York Presbyterian Cornell Med Ctr, New York, NY USA
[2] Cornell Univ, Weill Med Coll, New York, NY USA
关键词
hypertension; 11 hydroxylase congenital adrenal hyperplasia; genetic-novel mutation;
D O I
暂无
中图分类号
R6 [外科学];
学科分类号
1002 ; 100210 ;
摘要
P128
引用
收藏
页码:79A / 79A
页数:1
相关论文
共 50 条
  • [1] A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report
    Yuan, Xianxian
    Lu, Lin
    Chen, Shi
    Jiang, Jun
    Wang, Xiangqing
    Liu, Zhihui
    Zhu, Huijuan
    Pan, Hui
    Lu, Zhaolin
    [J]. BMC ENDOCRINE DISORDERS, 2018, 18
  • [2] A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report
    Xianxian Yuan
    Lin Lu
    Shi Chen
    Jun Jiang
    Xiangqing Wang
    Zhihui Liu
    Huijuan Zhu
    Hui Pan
    Zhaolin Lu
    [J]. BMC Endocrine Disorders, 18
  • [3] A novel CYP11B1 mutation in a Turkish patient with 11β-hydroxylase deficiency: An association with the severe hypokalemia leading to rhabdomyolysis
    Banu Sarer Yurekli
    Nilufer Ozdemir Kutbay
    Huseyin Onay
    Ilgin Yildirim Simsir
    Gokcen Unal Kocabas
    Mehmet Erdogan
    Sevki Cetinkalp
    Gokhan Ozgen
    Fusun Saygili
    [J]. Hormones, 2016, 15 : 300 - 302
  • [4] A novel CYP11B1 mutation in a Turkish patient with 11β-hydroxylase deficiency: An association with the severe hypokalemia leading to rhabdomyolysis
    Yurekli, Banu Sarer
    Kutbay, Nilufer Ozdemir
    Onay, Huseyin
    Simsir, Ilgin Yildirim
    Kocabas, Gokcen Unal
    Erdogan, Mehmet
    Cetinkalp, Sevki
    Ozgen, Gokhan
    Saygili, Fusun
    [J]. HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM, 2016, 15 (02): : 300 - 302
  • [5] Novel Mutations in CYP11B1 Gene Leading to 11β-Hydroxylase Deficiency in Brazilian Patients
    Soardi, Fernanda C.
    Penachioni, Junia Y.
    Justo, Giselle Z.
    Bachega, Tania A. S. S.
    Inacio, Marlene
    Mendonca, Berenice B.
    de Castro, Margaret
    de Mello, Maricilda P.
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2009, 94 (09): : 3481 - 3485
  • [6] Novel homozygous p.Y395X mutation in the CYP11B1 gene found in a Vietnamese patient with 11β-hydroxylase deficiency
    Huy Hoang Nguyen
    Thu Hien Nguyen
    Chi Dung Vu
    Kim Thoa Nguyen
    Bac Viet Le
    Thanh Liem Nguyen
    Van Hai Nong
    [J]. GENE, 2012, 509 (02) : 295 - 297
  • [7] Successful pregnancy in a patient with severe 11-beta-hydroxylase deficiency and novel mutations in CYP11B1 gene
    Simm, Peter J.
    Zacharin, Margaret R.
    [J]. HORMONE RESEARCH, 2007, 68 (06) : 294 - 297
  • [8] Novel homozygous p.R454C mutation in the CYP11B1 gene leads to 11β-hydroxylase deficiency in a Chinese patient
    Wu, Chaoming
    Zhou, Qi
    Wan, Lian
    Ni, Li
    Zheng, Chao
    Qian, Yanying
    Jin, Jian
    [J]. FERTILITY AND STERILITY, 2011, 95 (03) : 1122.e3 - 1122.e6
  • [9] Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11β-hydroxylase deficiency
    Wang, Xiaojing
    Nie, Min
    Lu, Lin
    Tong, Anli
    Chen, Shi
    Lu, Zhaolin
    [J]. STEROIDS, 2015, 100 : 11 - 16
  • [10] Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency
    Kandemir, Nurgun
    Yilmaz, Didem Yucel
    Gonc, E. Nazli
    Ozon, Alev
    Alikasifoglu, Ayfer
    Dursun, Ali
    Ozgul, R. Koksal
    [J]. JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, 2017, 165 : 57 - 63