Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension
2018; Wiley; Volume: 176; Issue: 11 Linguagem: Inglês
10.1002/ajmg.a.40349
ISSN1552-4833
AutoresLaura M. McDonell, Gordon Ka‐Chun Leung, Hussein Daoud, Janice Ip, Stella Chim, Ho‐Ming Luk, Lawrence C.L. Lan, Kym M. Boycott, Brian Hon‐Yin Chung,
Tópico(s)Dermatological and Skeletal Disorders
ResumoAmerican Journal of Medical Genetics Part AVolume 176, Issue 11 p. 2523-2527 RESEARCH LETTER Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension Laura M. McDonell, Laura M. McDonell orcid.org/0000-0001-9375-4423 Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, CanadaSearch for more papers by this authorGordon Ka-Chun Leung, Gordon Ka-Chun Leung Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong KongSearch for more papers by this authorHussein Daoud, Hussein Daoud Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, CanadaSearch for more papers by this authorJanice Ip, Janice Ip Department of Radiology, Queen Mary Hospital, Hong KongSearch for more papers by this authorStella Chim, Stella Chim Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong KongSearch for more papers by this authorHo Ming Luk, Ho Ming Luk orcid.org/0000-0003-4066-4066 Department of Health, Clinical Genetic Service, Hong KongSearch for more papers by this authorLawrence Lan, Lawrence Lan Division of Paediatric Surgery, Department of Surgery, The University of Hong Kong, Hong KongSearch for more papers by this authorCare4Rare Canada Consortium, Care4Rare Canada ConsortiumSearch for more papers by this authorKym M. Boycott, Corresponding Author Kym M. Boycott kboycott@cheo.on.ca Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada Correspondence Brian Hon-Yin Chung, Department of Paediatrics and Adolescent Medicine, 102 Pokfulam Road, Hong Kong. Email: bhychung@hku.hk and Kym M. Boycott, Department of Genetics, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, ON, Canada K1H 8L1. Email: kboycott@cheo.on.caSearch for more papers by this authorBrian Hon-Yin Chung, Corresponding Author Brian Hon-Yin Chung bhychung@hku.hk Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Correspondence Brian Hon-Yin Chung, Department of Paediatrics and Adolescent Medicine, 102 Pokfulam Road, Hong Kong. Email: bhychung@hku.hk and Kym M. Boycott, Department of Genetics, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, ON, Canada K1H 8L1. Email: kboycott@cheo.on.caSearch for more papers by this author Laura M. McDonell, Laura M. McDonell orcid.org/0000-0001-9375-4423 Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, CanadaSearch for more papers by this authorGordon Ka-Chun Leung, Gordon Ka-Chun Leung Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong KongSearch for more papers by this authorHussein Daoud, Hussein Daoud Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, CanadaSearch for more papers by this authorJanice Ip, Janice Ip Department of Radiology, Queen Mary Hospital, Hong KongSearch for more papers by this authorStella Chim, Stella Chim Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong KongSearch for more papers by this authorHo Ming Luk, Ho Ming Luk orcid.org/0000-0003-4066-4066 Department of Health, Clinical Genetic Service, Hong KongSearch for more papers by this authorLawrence Lan, Lawrence Lan Division of Paediatric Surgery, Department of Surgery, The University of Hong Kong, Hong KongSearch for more papers by this authorCare4Rare Canada Consortium, Care4Rare Canada ConsortiumSearch for more papers by this authorKym M. Boycott, Corresponding Author Kym M. Boycott kboycott@cheo.on.ca Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada Correspondence Brian Hon-Yin Chung, Department of Paediatrics and Adolescent Medicine, 102 Pokfulam Road, Hong Kong. Email: bhychung@hku.hk and Kym M. Boycott, Department of Genetics, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, ON, Canada K1H 8L1. Email: kboycott@cheo.on.caSearch for more papers by this authorBrian Hon-Yin Chung, Corresponding Author Brian Hon-Yin Chung bhychung@hku.hk Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Correspondence Brian Hon-Yin Chung, Department of Paediatrics and Adolescent Medicine, 102 Pokfulam Road, Hong Kong. Email: bhychung@hku.hk and Kym M. Boycott, Department of Genetics, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, ON, Canada K1H 8L1. Email: kboycott@cheo.on.caSearch for more papers by this author First published: 05 October 2018 https://doi.org/10.1002/ajmg.a.40349Citations: 6 Funding information Baxter and Alma Ricard Foundation, Grant/Award Number: Doctoral Research Award; Canadian Institutes of Health Research; Care4Rare Canada Consortium; Children's Hospital of Eastern Ontario Foundation; Genome Canada; Génome Québec; Ontario Genomics Institute; Ontario Research Fund; The Hong Kong Society for the Relief of Disabled Children Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. 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