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Case report: The spectrum of SMPD1 pathogenic variants in Hungary.
Molnar, Maria Judit; Szlepak, Tamas; Csürke, Ildikó; Loth, Szendile; Káposzta, Rita; Erdos, Melinda; Dezsofi, Antal.
Afiliación
  • Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.
  • Szlepak T; ELKH-SE Multiomics Neurodegeneration Research Group, Eötvös Loránd Research Network, Budapest, Hungary.
  • Csürke I; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.
  • Loth S; ELKH-SE Multiomics Neurodegeneration Research Group, Eötvös Loránd Research Network, Budapest, Hungary.
  • Káposzta R; Department of Pediatrics, Josa Andras County Hospital, Nyiregyhaza, Hungary.
  • Erdos M; Department of Pediatrics, Semmelweis University, Budapest, Hungary.
  • Dezsofi A; Department of Pediatrics, University of Debrecen, Debrecen, Hungary.
Front Genet ; 14: 1158108, 2023.
Article en En | MEDLINE | ID: mdl-37347058
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Texto completo: 1 Banco de datos: MEDLINE Idioma: En Revista: Front Genet Año: 2023 Tipo del documento: Article País de afiliación: Hungria
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Idioma: En Revista: Front Genet Año: 2023 Tipo del documento: Article País de afiliación: Hungria