Familial anti-GBM disease associated with a deletion in the COL4A3 gene: a potential clue to etiology

被引:0
|
作者
Seeger, Harald [1 ]
Pedchenko, Vadim [2 ]
Bergmann, Carsten [3 ]
Gaspert, Ariana [4 ]
Budko, Sergey [2 ]
Lorenzen, Johan M. [1 ]
Wuthrich, Rudolf P. [1 ]
Hudson, Billy [2 ]
Andreas, Kistler [5 ]
机构
[1] Univ Hosp Zurich, Zurich, Switzerland
[2] Vanderbilt Univ, Med Ctr, Nashville, TN USA
[3] Bioscientia Ctr Human Genet, Ingelheim, Germany
[4] Univ Hosp Zurich, Inst Pathol & Mol Pathol, Zurich, Switzerland
[5] Frauenfeld Cantonal Hosp, Frauenfeld, Switzerland
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
P 31
引用
收藏
页码:20S / 20S
页数:1
相关论文
共 23 条
  • [21] GENOTYPE-PHENOTYPE CORRELATION IN A COHORT OF INDIVIDUALS WITH DISEASE-CAUSING VARIANTS IN COL4A3/COL4A4 ASSOCIATED WITH TYPE-IV-COLLAGEN-RELATED NEPHROPATHY (ALPORT SYNDROME AND THIN BASEMENT MEMBRANE NEPHROPATHY)
    Hannes, Simmendinger
    Maria, Riedhammer Korbinian
    Velibor, Tasic
    Jovana, Putnik
    Nora, Abazi-emini
    Natasa, Stajic
    Marc, Weidenbusch
    Ludwig, Patzer
    Adrian, Lungu
    Gordana, Milosevski-lomic
    Matthias, Braunisch
    Roman, Guenthner
    Jasmina, Comic
    Julia, Hoefele
    PEDIATRIC NEPHROLOGY, 2022, 37 (11) : 2854 - 2854
  • [22] An unusual presentation of propylthiouracil-induced anti-MPO and PR3 positive ANCA vasculitis with associated anti-GBM antibodies, IgA nephropathy and an IgG4 interstitial infiltrate: a case report
    Galante, J. R.
    Daruwalla, C. P.
    Roberts, I. S. D.
    Haynes, R.
    Storey, B. C.
    Bottomley, M. J.
    BMC NEPHROLOGY, 2020, 21 (01)
  • [23] An unusual presentation of propylthiouracil-induced anti-MPO and PR3 positive ANCA vasculitis with associated anti-GBM antibodies, IgA nephropathy and an IgG4 interstitial infiltrate: a case report
    J. R. Galante
    C. P. Daruwalla
    I. S. D. Roberts
    R. Haynes
    B. C. Storey
    M. J. Bottomley
    BMC Nephrology, 21