Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension.
作者信息
McDonell Laura M, Leung Gordon Ka-Chun, Daoud Hussein, Ip Janice, Chim Stella, Luk Ho Ming, Lan Lawrence, Boycott Kym M, Chung Brian Hon-Yin
机构信息
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong.
出版信息
Am J Med Genet A. 2018 Nov;176(11):2523-2527. doi: 10.1002/ajmg.a.40349. Epub 2018 Oct 5.
PMID:30289595
Abstract
摘要
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