X-linked congenital adrenal hypoplasia due to a novel mutation in NR0B1 gene

被引:0
|
作者
Todorova, Zdravka [1 ,2 ]
Yordanova, Desislava [1 ,2 ]
Dimitrova, Mihaela [1 ,2 ]
Gerdjikova, Vanya [1 ]
Baycheva, Mila [1 ,2 ]
机构
[1] Specialized Hosp Active Treatment Pediat Dis, Sofia, Bulgaria
[2] Med Univ Sofia, Sofia, Bulgaria
来源
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
P2-25
引用
收藏
页码:336 / 336
页数:1
相关论文
共 50 条
  • [1] X-linked congenital adrenal hypoplasia with a novel NR0B1/DAX gene mutation
    Abraham M.B.
    Shetty V.B.
    McKenzie F.
    Curran J.
    Indian Pediatrics, 2016, 53 (6) : 529 - 531
  • [2] X-linked Congenital Adrenal Hypoplasia with a Novel NR0B1/DAX Gene Mutation
    Abraham, Mary B.
    Shetty, Vinutha B.
    McKenzie, Fiona
    Curran, Jacqueline
    INDIAN PEDIATRICS, 2016, 53 (06) : 529 - 531
  • [3] A novel NR0B1 mutation correlated with X-linked adrenal hypoplasia congenital (AHC)
    Komachali, Sajad Rafiee
    Nouri, Negar
    Zaker, Erfan
    Mousavi, Seyyed Reza
    Salehi, Mansoor
    GENE REPORTS, 2022, 27
  • [4] Identification of a novel mutation of NR0B1 in a patient with X-linked adrenal hypoplasia and symptomatic treatment
    Yang, Jing
    Lv, Yuncheng
    Zhou, Ye
    Xiao, Xinhua
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2017, 30 (12): : 1299 - 1304
  • [5] A Novel Mutation of DAX-1 (NR0B1) in a Boy with X-linked Adrenal Hypoplasia Congenita
    Gerster, Karine
    Katschnig, Claudia
    Wyss, Sascha
    Kolly, Anne
    Biason-Lauber, Anna
    Konrad, Daniel
    HORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 149 - 150
  • [6] A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita
    Gerster, Karine
    Katschnig, Claudia
    Wyss, Sascha
    Kolly, Anne
    Sproll, Patrick
    Biason-Lauber, Anna
    Konrad, Daniel
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2017, 30 (12): : 1321 - 1325
  • [7] A novel variant in NR0B1 causing X-linked adrenal hypoplasia congenita
    Heo, Seung
    Shim, Young Suk
    Lee, Hae Sang
    Hwang, Jin Soon
    ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2024, 29 (03) : 204 - 206
  • [8] A Case of X-Linked Adrenal Hypoplasia Congenital (AHC) Due to Large Deletion of NR0B1 (DAX1) and Contiguous Gene
    Shin, Chungwoo
    Kim, Sung Eun
    Moon, Cheong Jun
    Yoo, Il Han
    Yim, Jisook
    Cho, Won-Kyong
    Kim, Myungshin
    Lee, Jung Hyun
    ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2023, 53 (04): : 667 - 670
  • [9] Three cases of congenital adrenal hypoplasia with hypogonadotropic hypogonadism due to novel NR0B1 mutation
    袁晶晶
    ChinaMedicalAbstracts(InternalMedicine), 2022, 39 (04) : 216 - 216
  • [10] X-linked congenital adrenal hypoplasia: a clinical case report and description of a new complex rearrangement in the NR0B1 gene
    Esquiaveto-Aun, Adriana Mangue
    Guerra Junior, Gil
    de Mello, Maricilda Palandi
    Valente De Lemos-Marini, Sofia Helena
    Guaragna, Mara Sanches
    Mazzola, Tais Nitsch
    HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 (SUPPL 2): : 61 - 61