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A novel mutation in the ZNF462 gene c.3306dup; p.(Gln1103Thrfs*10) is associated to Weiss-Kruszka syndrome. A case report.
González-Tarancón, R; Salvador-Rupérez, E; Miramar Gallart, M D; Barroso, E; Díez García-Prieto, I; Pérez Delgado, R; López Pisón, J; García Jiménez, M C.
Afiliação
  • González-Tarancón R; Dept. of Clinical Biochemistry, Clinical Genetic Laboratory, University Hospital Miguel Servet, Zaragoza, Spain.
  • Salvador-Rupérez E; Dept. of Clinical Biochemistry, Clinical Genetic Laboratory, University Hospital Miguel Servet, Zaragoza, Spain.
  • Miramar Gallart MD; Dept. of Clinical Biochemistry, Clinical Genetic Laboratory, University Hospital Miguel Servet, Zaragoza, Spain.
  • Barroso E; NIMGenetics, Madrid, Spain.
  • Díez García-Prieto I; NIMGenetics, Madrid, Spain.
  • Pérez Delgado R; Dept. of Pediatrics, Neurometabolism Unit, University Hospital Miguel Servet, Zaragoza, Spain.
  • López Pisón J; Dept. of Pediatrics, Neurometabolism Unit, University Hospital Miguel Servet, Zaragoza, Spain.
  • García Jiménez MC; Dept. of Pediatrics, Neurometabolism Unit, University Hospital Miguel Servet, Zaragoza, Spain.
Acta Clin Belg ; 77(1): 118-121, 2022 Feb.
Article em En | MEDLINE | ID: mdl-32543299
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Craniofaciais Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans / Infant Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Craniofaciais Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans / Infant Idioma: En Ano de publicação: 2022 Tipo de documento: Article