title: Kleefstra-variant syndrome with heterozygous mutations in EHMT1 and KCNQ2 genes: a case report.
authors.affiliation: Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, Via S. Allende 1, 84081, Baronissi, SA, Italy.|Genomix4Life Srl, Department of Medicine and Surgery, University of Salerno, Baronissi, Italy.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Marchese
authors.affiliation: Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, Via S. Allende 1, 84081, Baronissi, SA, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Rizzo
authors.affiliation: Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, Via S. Allende 1, 84081, Baronissi, SA, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Guacci
authors.affiliation: 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.|Molecular Pathology and Medical Genomics, "SS. Giovanni di Dio e Ruggi d'Aragona, Schola Medica Salernitana" Hospital of the University of Salerno, Salerno, Italy. aweisz@unisa.it.
authors.forename: Alessandro
authors.identifier: http://orcid.org/0000-0003-0455-2083
authors.initials: A
authors.lastname: Weisz
authors.affiliation: Child and Adolescent Neuropsychiatry, Department of Medicine and Surgery, "SS. Giovanni di Dio e Ruggi d'Aragona, Schola Medica Salernitana" Hospital of the University of Salerno, Via S. Allende 1, 84081, Baronissi, SA, Italy. gcoppola@unisa.it.
authors.forename: Giangennaro
authors.initials: G
authors.lastname: Coppola
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004252:DNA Mutational Analysis; D006330:Heart Defects, Congenital / Q000235:genetics*; D011495:Histone-Lysine N-Methyltransferase / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D051658:KCNQ2 Potassium Channel / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*
chemical_list: D051658:KCNQ2 Potassium Channel; C496914:KCNQ2 protein, human; C455847:EHMT1 protein, human; D011495:Histone-Lysine N-Methyltransferase
keywords: EHMT1; KCNQ2; Kleefstra syndrome; Next generation sequencing; Whole exome sequencing