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Kleefstra-variant syndrome with heterozygous mutations in EHMT1 and KCNQ2 genes: a case report

Giovanna Marchese1,2, Francesca Rizzo1, Anna Guacci1

  • 1Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, Via S. Allende 1, 84081, Baronissi, SA, Italy.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|January 22, 2016
PubMed
Abstract

No abstract available in PubMed .

Keywords:
EHMT1KCNQ2Kleefstra syndromeNext generation sequencingWhole exome sequencing

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