Patient with a DICER1 phenotype with multiple tumours, lacking a germline mutation - mosaic DICER1 mutation

被引:0
作者
Knittel, R. [1 ]
Ng, M. [2 ]
Kiraly-Borri, C. [3 ]
Azmanov, D. [4 ]
Edwards, C. G. [4 ]
Parshotam [5 ]
Charles, A. [1 ]
机构
[1] Perth Childrens Hosp, PathWest, Dept Anat Pathol, Perth, WA, Australia
[2] Perth Childrens Hosp, Dept Paediat & Adolescent Oncol & Bone Marrow Tra, Perth, WA, Australia
[3] Govt Western Australia, Genet Serv Western Australia, Dept Hlth, Perth, WA, Australia
[4] QEII, Dept Diagnost Genom, Perth, WA, Australia
[5] Perth Childrens Hosp, Dept Paediat Surg, Perth, WA, Australia
关键词
D O I
暂无
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
272
引用
收藏
页码:152 / 152
页数:1
相关论文
共 2 条
  • [1] High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome
    de Kock, Leanne
    Wang, Yu Chang
    Revil, Timothee
    Badescu, Dunarel
    Rivera, Barbara
    Sabbaghian, Nelly
    Wu, Mona
    Weber, Evan
    Sandoval, Claudio
    Hopman, Saskia M. J.
    Merks, Johannes H. M.
    van Hagen, Johanna M.
    Bouts, Antonia H. M.
    Plager, David A.
    Ramasubramanian, Aparna
    Forsmark, Linus
    Doyle, Kristine L.
    Toler, Tonja
    Callahan, Janine
    Engelenberg, Charlotte
    Bouron-Dal Soglio, Dorothee
    Priest, John R.
    Ragoussis, Jiannis
    Foulkes, William D.
    [J]. JOURNAL OF MEDICAL GENETICS, 2016, 53 (01) : 43 - 52
  • [2] Schultz K, 2014, GeneReviews Internet