Your browser doesn't support javascript.
loading
Kleefstra-variant syndrome with heterozygous mutations in EHMT1 and KCNQ2 genes: a case report.
Marchese, Giovanna; Rizzo, Francesca; Guacci, Anna; Weisz, Alessandro; Coppola, Giangennaro.
Afiliação
  • Marchese G; Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, Via S. Allende 1, 84081, Baronissi, SA, Italy.
  • Rizzo F; Genomix4Life Srl, Department of Medicine and Surgery, University of Salerno, Baronissi, Italy.
  • Guacci A; Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, Via S. Allende 1, 84081, Baronissi, SA, Italy.
  • Weisz A; Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, Via S. Allende 1, 84081, Baronissi, SA, Italy.
  • Coppola G; Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, Via S. Allende 1, 84081, Baronissi, SA, Italy. aweisz@unisa.it.
Neurol Sci ; 37(5): 829-31, 2016 May.
Article em En | MEDLINE | ID: mdl-26792009
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Histona-Lisina N-Metiltransferase / Anormalidades Craniofaciais / Canal de Potássio KCNQ2 / Cardiopatias Congênitas / Deficiência Intelectual / Mutação Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Histona-Lisina N-Metiltransferase / Anormalidades Craniofaciais / Canal de Potássio KCNQ2 / Cardiopatias Congênitas / Deficiência Intelectual / Mutação Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article