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A novel de novo intragenic duplication in FBN1 associated with early-onset Marfan syndrome in a 16-month-old: A case report and review of the literature.
Piscopo, Anthony; Warner, Taylor; Nagy, Jaime; Nagrale, Vidya; Stence, Aaron; Guseva, Natalya; Bernat, John A; Calhoun, Amy.
  • Piscopo A; University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
  • Warner T; Stead Family Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
  • Nagy J; Stead Family Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
  • Nagrale V; Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
  • Stence A; Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
  • Guseva N; Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
  • Bernat JA; Stead Family Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
  • Calhoun A; Stead Family Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
Am J Med Genet A ; 194(2): 368-373, 2024 Feb.
Article en En | MEDLINE | ID: mdl-37840436
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Marfan Límite: Female / Humans / Infant Idioma: En Año: 2024 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Marfan Límite: Female / Humans / Infant Idioma: En Año: 2024 Tipo del documento: Article