A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy.

Sedlácková, Lucie; Sterbová, Katalin; Vlcková, Markéta; Maulisová, Alice; Lassuthová, Petra

Sedlácková, Lucie; Sterbová, Katalin; Vlcková, Markéta; Maulisová, Alice; Lassuthová, Petra.

Afiliación

Sedlácková L; Neurogenetic Laboratory, Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Sterbová K; Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Vlcková M; Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Maulisová A; Department of Psychology, Second Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Lassuthová P; Neurogenetic Laboratory, Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.

Am J Med Genet A ; 185(5): 1363-1365, 2021 05.

Article en En | MEDLINE | ID: mdl-33590706

Asunto(s)

Encefalopatías; Mutación Missense; Proteínas 14-3-3/genética; Estudios de Asociación Genética; Heterocigoto; Humanos; Fenotipo

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Mutación Missense Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: República Checa Pais de publicación: Estados Unidos

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