Your browser doesn't support javascript.
loading
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation.
Vlckova, Marketa; Prchalova, Darina; Zimmermann, Pavel; Haberlova, Jana; Bendova, Sarka; Moslerova, Veronika; Stranecky, Viktor; Sedlacek, Zdenek; Hancarova, Miroslava.
Afiliación
  • Vlckova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Prchalova D; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Zimmermann P; Department of Statistics and Probability, Faculty of Informatics and Statistics, University of Economics, Prague, Czech Republic.
  • Haberlova J; Department of Pediatric Neurology, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Bendova S; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Moslerova V; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Stranecky V; Department of Pediatrics and Adolescent Medicine, Diagnostic and Research Unit for Rare Diseases, Charles University First Faculty of Medicine and General University Hospital, Prague, Czech Republic.
  • Sedlacek Z; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Hancarova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Mol Genet Genomic Med ; 11(6): e2154, 2023 06.
Article en En | MEDLINE | ID: mdl-36840359
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndromes Miasténicos Congénitos / Simportadores / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Male Idioma: En Revista: Mol Genet Genomic Med Año: 2023 Tipo del documento: Article País de afiliación: República Checa
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndromes Miasténicos Congénitos / Simportadores / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Male Idioma: En Revista: Mol Genet Genomic Med Año: 2023 Tipo del documento: Article País de afiliación: República Checa