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Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients.
Piacitelli, Andrew M; Jensen, Dana M; Brandling-Bennett, Heather; Gray, Megan Mariner; Batra, Maneesh; Gust, Juliane; Thaker, Ameet; Paschal, Catherine; Tsuchiya, Karen; Pritchard, Colin C; Perkins, Jonathan; Mirzaa, Ghayda M; Bennett, James T.
Afiliação
  • Piacitelli AM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
  • Jensen DM; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington.
  • Brandling-Bennett H; Department of Pediatrics, Division of Dermatology, Seattle Children's Hospital, Seattle, Washington.
  • Gray MM; Department of Pediatrics, Division of Neonatology, University of Washington, Seattle, Washington.
  • Batra M; Department of Pediatrics, Division of Neonatology, University of Washington, Seattle, Washington.
  • Gust J; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
  • Thaker A; Department of Neurology, Division of Pediatric Neurology, University of Washington, Seattle, Washington.
  • Paschal C; Department of Pathology, Children's Medical Center of Dallas, University of Texas Southwestern Medical Center, Dallas, Texas.
  • Tsuchiya K; Department of Laboratories, Seattle Children's Hospital, Seattle, Washington.
  • Pritchard CC; Department of Laboratory Medicine, University of Washington, Seattle, Washington.
  • Perkins J; Department of Laboratories, Seattle Children's Hospital, Seattle, Washington.
  • Mirzaa GM; Department of Laboratory Medicine, University of Washington, Seattle, Washington.
  • Bennett JT; Department of Laboratory Medicine, University of Washington, Seattle, Washington.
Am J Med Genet A ; 176(11): 2301-2308, 2018 11.
Article em En | MEDLINE | ID: mdl-30063105
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Reação em Cadeia da Polimerase / Classe I de Fosfatidilinositol 3-Quinases / Sequenciamento de Nucleotídeos em Larga Escala / Relatório de Pesquisa / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA 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: Anormalidades Múltiplas / Reação em Cadeia da Polimerase / Classe I de Fosfatidilinositol 3-Quinases / Sequenciamento de Nucleotídeos em Larga Escala / Relatório de Pesquisa / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article