Salt-Wasting CAH phenotype as a result of the TNXA/TNXB Chimera 1 (CAH-X CH-1) and the severe IVS2-13A/C>G in CYP21A2 gene

被引:0
|
作者
Fanis, Pavlos [1 ]
Skordis, Nicos [1 ,2 ,3 ]
Phylactou, Leonidas A. [1 ]
Neocleous, Vassos [1 ]
机构
[1] Cyprus Inst Neurol & Genet, Nicosia, Cyprus
[2] Paedi Ctr Specialized Pediat, Nicosia, Cyprus
[3] Univ Nicosia, Sch Med, Nicosa, Cyprus
来源
HORMONE RESEARCH IN PAEDIATRICS | 2022年 / 95卷 / SUPPL 2期
关键词
D O I
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中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
P1-215
引用
收藏
页码:130 / 130
页数:1
相关论文
共 2 条
  • [1] Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene
    Fanis, Pavlos
    Skordis, Nicos
    Phylactou, Leonidas A.
    Neocleous, Vassos
    HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM, 2023, 22 (01): : 71 - 77
  • [2] Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene
    Pavlos Fanis
    Nicos Skordis
    Leonidas A. Phylactou
    Vassos Neocleous
    Hormones, 2023, 22 : 71 - 77