Your browser doesn't support javascript.
loading
Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).
Rosano, Kristen K; Wegner, Daniel J; Shinawi, Marwan; Baldridge, Dustin; Bucelli, Robert C; Dahiya, Sonika; White, Frances V; Willing, Marcia C; McAllister, William; Taft, Ryan J; Bluske, Krista; Buchanan, Amanda; Cole, Francis Sessions; Wambach, Jennifer A.
Afiliación
  • Rosano KK; Division of Newborn Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Wegner DJ; Division of Newborn Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Baldridge D; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Bucelli RC; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Dahiya S; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, USA.
  • White FV; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Willing MC; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
  • McAllister W; Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Taft RJ; Illumina, Inc., San Diego, California, USA.
  • Bluske K; Illumina, Inc., San Diego, California, USA.
  • Buchanan A; Illumina, Inc., San Diego, California, USA.
  • Cole FS; Division of Newborn Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Wambach JA; Division of Newborn Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
Am J Med Genet A ; 185(7): 2190-2197, 2021 07.
Article en En | MEDLINE | ID: mdl-33931933
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Artrogriposis / Atrofia Muscular Espinal / Proteínas Portadoras Tipo de estudio: Prognostic_studies Límite: Female / Humans / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Artrogriposis / Atrofia Muscular Espinal / Proteínas Portadoras Tipo de estudio: Prognostic_studies Límite: Female / Humans / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos