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Case report: A novel biallelic FTO variant causing multisystem anomalies with severe epilepsy, widening the spectrum of FTO syndrome.
Mayman, Naomi; Wei, Jiangbo; Cai, Shangjun; Soman, Rohan; Raynes, Hillary; La Vega-Talbott, Maite; He, Chuan; Naidich, Thomas; Raju, G Praveen; Kathiresu Nageshwaran, Sathiji.
Afiliación
  • Mayman N; Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Wei J; Department of Chemistry, University of Chicago, IL, USA.
  • Cai S; Department of Chemistry, University of Chicago, IL, USA.
  • Soman R; Weill Cornell/Rockefeller/Sloan Kettering MD/PhD Tri-institutional Program, New York, NY, USA.
  • Raynes H; Department of Pediatrics, Mount Sinai, New York, NY, USA.
  • La Vega-Talbott M; Department of Neurology, Mount Sinai, New York, NY, USA.
  • He C; Department of Pediatrics, Mount Sinai, New York, NY, USA.
  • Naidich T; Department of Neurology, Mount Sinai, New York, NY, USA.
  • Raju GP; Department of Chemistry, University of Chicago, IL, USA.
  • Kathiresu Nageshwaran S; Department of Radiology, Mount Sinai, New York, NY, USA.
SAGE Open Med Case Rep ; 11: 2050313X231188883, 2023.
Article en En | MEDLINE | ID: mdl-37529081
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: SAGE Open Med Case Rep Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: SAGE Open Med Case Rep Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido