Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension

被引：9

作者：

McDonell, Laura M. ^{[1
]}

Leung, Gordon Ka-Chun ^{[2
]}

Daoud, Hussein ^{[3
]}

Ip, Janice ^{[4
]}

Chim, Stella ^{[2
]}

Luk, Ho Ming ^{[5
]}

Lan, Lawrence ^{[6
]}

Boycott, Kym M. ^{[1
]}

Chung, Brian Hon-Yin ^{[2
]}

机构：

[1] Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada

[2] Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R China

[3] Childrens Hosp Eastern Ontario, Dept Genet, 401 Smyth Rd, Ottawa, ON K1H 8L1, Canada

[4] Queen Mary Hosp, Dept Radiol, Hong Kong, Peoples R China

[5] Clin Genet Serv, Dept Hlth, Hong Kong, Peoples R China

[6] Univ Hong Kong, Dept Surg, Div Paediat Surg, Hong Kong, Peoples R China

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2018年 / 176卷 / 11期

基金：

加拿大健康研究院;

关键词：

diaphragm/diagnostic imaging; genes; Ras; hypertension; renovascular; lipomatosis/genetics; mutation; missense; neurocutaneous syndromes/diagnosis; proto-oncogene; renal-artery obstruction; RENAL-ARTERY ENTRAPMENT; OCULOECTODERMAL SYNDROME; CANCER;

D O I：

10.1002/ajmg.a.40349

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：2523 / 2527

页数：5

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