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EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.
Cohen, Jennifer L; Schrier Vergano, Samantha A; Mazzola, Sarah; Strong, Alanna; Keena, Beth; McDougall, Carey; Ritter, Alyssa; Li, Dong; Bedoukian, Emma C; Burke, Leah W; Hoffman, Amber; Zurcher, Victoria; Krantz, Ian D; Izumi, Kosuke; Bhoj, Elizabeth; Zackai, Elaine H; Deardorff, Matthew A.
Afiliação
  • Cohen JL; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Schrier Vergano SA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
  • Mazzola S; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC, USA.
  • Strong A; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
  • Keena B; Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.
  • McDougall C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Ritter A; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
  • Li D; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Bedoukian EC; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Burke LW; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Hoffman A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Zurcher V; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Krantz ID; Department of Pediatrics, Division of Clinical Genetics, University of Vermont Larner College of Medicine, Burlington, VT, USA.
  • Izumi K; Paul C. Gaffney Division of Pediatric Hospital Medicine, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
  • Bhoj E; Department of Pediatrics, Divisions of General Academic Pediatrics and Pediatric Hospital Medicine, Nemours Children's Health System, Orlando, FL, USA.
  • Zackai EH; Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.
  • Deardorff MA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Am J Med Genet A ; 182(12): 2926-2938, 2020 12.
Article em En | MEDLINE | ID: mdl-33043588
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article