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Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
Wooderchak-Donahue, Whitney L; Akay, Gulsen; Whitehead, Kevin; Briggs, Eric; Stevenson, David A; O'Fallon, Brendan; Velinder, Matthew; Farrell, Andrew; Shen, Wei; Bedoukian, Emma; Skrabann, Cara M; Antaya, Richard J; Henderson, Kate; Pollak, Jeffrey; Treat, James; Day, Ronald; Jacher, Joseph E; Hannibal, Mark; Bontempo, Kelly; Marth, Gabor; Bayrak-Toydemir, Pinar; McDonald, Jamie.
Afiliação
  • Wooderchak-Donahue WL; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA.
  • Akay G; Department of Pathology, University of Utah, Salt Lake City, UT, USA.
  • Whitehead K; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA.
  • Briggs E; Zeynep Kamil Training and Research Hospital, Istanbul, Turkey.
  • Stevenson DA; Division of Cardiovascular Medicine, Department of Medicine, HHT Center, University of Utah, Salt Lake City, UT, USA.
  • O'Fallon B; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA.
  • Velinder M; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA.
  • Farrell A; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA.
  • Shen W; USTAR Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
  • Bedoukian E; USTAR Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
  • Skrabann CM; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA.
  • Antaya RJ; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Henderson K; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Pollak J; Division of Human Genetics, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Treat J; Departments of Dermatology and Pediatrics and HHT Program, Yale University School of Medicine, New Haven, CT, USA.
  • Day R; Department of Radiology and Biomedical Imaging, and HHT Program, Yale University School of Medicine, New Haven, CT, USA.
  • Jacher JE; Department of Radiology and Biomedical Imaging, and HHT Program, Yale University School of Medicine, New Haven, CT, USA.
  • Hannibal M; Dematology Section, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Bontempo K; Division of Pediatric Cardiology, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.
  • Marth G; Department of Pediatrics and Communicable Diseases, Division of Pediatric Genetics, Metabolism &Genomic Medicine, University of Michigan, Ann Arbor, MI, USA.
  • Bayrak-Toydemir P; Department of Pediatrics and Communicable Diseases, Division of Pediatric Genetics, Metabolism &Genomic Medicine, University of Michigan, Ann Arbor, MI, USA.
  • McDonald J; Advocate Children's Hospital, Park Ridge, IL, USA.
Genet Med ; 21(9): 2007-2014, 2019 09.
Article em En | MEDLINE | ID: mdl-30760892
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Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 2_ODS3 Base de dados: MEDLINE Assunto principal: Telangiectasia Hemorrágica Hereditária / Capilares / Testes Genéticos / Receptor EphB4 / Malformações Vasculares Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Genet Med Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 2_ODS3 Base de dados: MEDLINE Assunto principal: Telangiectasia Hemorrágica Hereditária / Capilares / Testes Genéticos / Receptor EphB4 / Malformações Vasculares Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Genet Med Ano de publicação: 2019 Tipo de documento: Article