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Article

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

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 May 2016

Marchese Giovanna, Rizzo Francesca, Guacci Anna, Weisz Alessandro, Coppola Giangennaro

Abstract excerpt

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Topics

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 9
Share to Craniofacial Abnormalities

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Heart Defects, Congenital

Share to Histone-Lysine N-Methyltransferase

Share to Intellectual Disability

Share to KCNQ2 Potassium Channel

Source

Identifiers

PMID: 26792009
DOI: 10.1007/s10072-016-2482-4

Genes

EHMT1
KCNQ2

Provenance

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