Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis

被引：15
|
作者：
Lee, J. W.
机构：
[1] Department of Medical Genetics, Canadian Pharmacogenomic Network for Drug Safety (CPNDS), Center for Molecular Medicine and Therapeutics, University of British Columbia, 950 West 28th Avenue, Vancouver, BC
来源：
CLINICAL GENETICS | 2013年 / 84卷 / 04期
关键词：
D O I：
10.1111/cge.12238
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A recurrent PDGFRB mutation causes familial infantile myofibromatosis Cheung et al. (2013) The American Journal of Human Genetics 92: 996-1000. Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis Martignetti et al. (2013) The American Journal of Human Genetics 92: 1001-1007.
引用
收藏
页码：340 / 341
页数：2
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