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

来源：

HISTOPATHOLOGY | 2022年 / 81卷

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

页码：152 / 152

页数：1

共 2 条

[1] High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome [J].

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. .

JOURNAL OF MEDICAL GENETICS, 2016, 53 (01) :43-52

[2]

Schultz KAP., 2014, GENEREVIEWS, P1993

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