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Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy.
Ellis, Carter; Eason, Chelsea; Snyder, Alan; Siegel, Mark; Pai, Gurpur Shashidhar; Ryan, Erin; Pfendner, Ellen G; Lee, Lara Wine.
Afiliación
  • Ellis C; College of Medicine, Medical University of South Carolina, Charleston, South Carolina.
  • Eason C; Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina, Charleston, South Carolina.
  • Snyder A; College of Medicine, Medical University of South Carolina, Charleston, South Carolina.
  • Siegel M; Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina, Charleston, South Carolina.
  • Pai GS; Department of Pediatrics, Medical University of South Carolina, Charleston, South Carolina.
  • Ryan E; Department of Genetics, Medical University of South Carolina, Charleston, South Carolina.
  • Pfendner EG; Clinical Genomics Program, GeneDx Inc, Gaithersburg, Maryland.
  • Lee LW; Epidermolysis Bullosa Diagnostics Program, GeneDx Inc, Gaithersburg, Maryland.
JAAD Case Rep ; 11: 63-68, 2021 May.
Article en En | MEDLINE | ID: mdl-33937469
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Revista: JAAD Case Rep Año: 2021 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Revista: JAAD Case Rep Año: 2021 Tipo del documento: Article Pais de publicación: Estados Unidos