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Simultaneous KIT mutation and succinate dehydrogenase (SDH) deficiency in a patient with a gastrointestinal stromal tumour and Carney-Stratakis syndrome: a case report
被引:7
|作者:
Jove, Maria
[1
]
Mora, Jaume
[2
]
Sanjuan, Xavier
[3
]
Rodriguez, Eva
[2
]
Robledo, Mercedes
[4
]
Farran, Leandre
[5
]
del Muro, Xavier Garcia
[1
]
机构:
[1] Inst Catala Oncol, Dept Med Oncol, Barcelona, Spain
[2] HSJD, Dept Pediat Oncol, Barcelona, Spain
[3] Hosp Univ Bellvitge, Dept Pathol, Barcelona, Spain
[4] Spanish Natl Canc Ctr CNIO, Human Canc Genet Programme, Grp Leader, Hereditary Endocrine Canc, Madrid, Spain
[5] Hosp Univ Bellvitge, Dept Surg, Barcelona, Spain
关键词:
carney-stratakis syndrome;
gastrointestinal stromal tumour;
succinate dehydrogenase gene;
GERMLINE MUTATIONS;
MOLECULAR-GENETICS;
PDGFRA MUTATIONS;
TRIAD;
GISTS;
PARAGANGLIOMAS;
EXPRESSION;
SUBUNIT;
D O I:
10.1111/his.12506
中图分类号:
Q2 [细胞生物学];
学科分类号:
071009 ;
090102 ;
摘要:
[No abstract available]
引用
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页码:712 / 717
页数:6
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