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Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension.
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.
Afiliação
  • McDonell LM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
  • Leung GK; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong.
  • Daoud H; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
  • Ip J; Department of Radiology, Queen Mary Hospital, Hong Kong.
  • Chim S; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong.
  • Luk HM; Department of Health, Clinical Genetic Service, Hong Kong.
  • Lan L; Division of Paediatric Surgery, Department of Surgery, The University of Hong Kong, Hong Kong.
  • Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
  • Chung BH; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong.
Am J Med Genet A ; 176(11): 2523-2527, 2018 11.
Article em En | MEDLINE | ID: mdl-30289595
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Proto-Oncogênicas p21(ras) / Síndromes Neurocutâneas / Oftalmopatias / Hipertensão Renovascular / Lipomatose / Mosaicismo / Mutação Limite: Adolescent / Child / Child, preschool / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Proto-Oncogênicas p21(ras) / Síndromes Neurocutâneas / Oftalmopatias / Hipertensão Renovascular / Lipomatose / Mosaicismo / Mutação Limite: Adolescent / Child / Child, preschool / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article