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Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome.
Wojcik, Monica H; Thiele, Katri; Grant, Carly F; Chao, Katherine; Goodrich, Julia; O'Donnell-Luria, Anne; Lacro, Ronald V; Tan, Wen-Hann; Agrawal, Pankaj B.
Afiliação
  • Wojcik MH; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Re
  • Thiele K; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
  • Grant CF; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Massachusetts General Hospital-Center for Cancer Risk Assessment, Boston, MA, USA.
  • Chao K; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Goodrich J; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • O'Donnell-Luria A; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; The Broad Institute of MIT and Harvard, Cambridg
  • Lacro RV; Department of Cardiology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
  • Tan WH; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
  • Agrawal PB; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Re
J Pediatr ; 213: 235-240, 2019 10.
Article em En | MEDLINE | ID: mdl-31235381
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Análise de Sequência de DNA / Fibrilina-1 / Síndrome de Marfan Tipo de estudo: Prognostic_studies Limite: Humans / Infant / Male Idioma: En Revista: J Pediatr Ano de publicação: 2019 Tipo de documento: Article País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Análise de Sequência de DNA / Fibrilina-1 / Síndrome de Marfan Tipo de estudo: Prognostic_studies Limite: Humans / Infant / Male Idioma: En Revista: J Pediatr Ano de publicação: 2019 Tipo de documento: Article País de publicação: Estados Unidos