Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship?

被引：21

作者：

Bertola, D. R. ^{[1
]}

Pereira, A. C. ^{[2
]}

Brasil, A. S. ^{[1
]}

Suzuki, L. ^{[3
]}

Leite, C. ^{[3
]}

Falzoni, R. ^{[4
]}

Tannuri, U. ^{[5
]}

Poplawski, A. B. ^{[6
]}

Janowski, K. M. ^{[6
]}

Kim, C. A. ^{[1
]}

Messiaen, L. M. ^{[1
]}

机构：

[1] Univ Sao Paulo, Fac Med, Unidade Genet, Inst Crianca, Sao Paulo, Brazil

[2] Univ Sao Paulo, Fac Med, InCor, Sao Paulo, Brazil

[3] Univ Sao Paulo, Fac Med, Dept Radiol, Sao Paulo, Brazil

[4] Univ Sao Paulo, Fac Med, Dept Pathol, Sao Paulo, Brazil

[5] Univ Sao Paulo, Fac Med, Dept Pediat, Sao Paulo, Brazil

[6] Univ Alabama Birmingham, Med Genet Lab, Dept Genet, Birmingham, AL 35294 USA

来源：

CLINICAL GENETICS | 2012年 / 81卷 / 06期

关键词：

OF-THE-LITERATURE; NOONAN-SYNDROME; COSTELLO-SYNDROME; SPORADIC SCHWANNOMATOSIS; DISORDERS; SMARCB1; CANCER; NF2;

D O I：

10.1111/j.1399-0004.2011.01764.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：595 / 597

页数：3

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