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Article

Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.

Molecular genetics & genomic medicine - 1 May 2018

van der Schoot Vyne, de Munnik Sonja, Venselaar Hanka, Elting Mariet, Mancini Grazia M S, Ravenswaaij-Arts Conny M A, Anderlid Britt-Marie, Brunner Han G, Stevens Servi J C

Abstract excerpt

BACKGROUND: Patients with pathogenic variants in ZBTB18 present with Intellectual Disability (ID) with frequent co-occurrence of corpus callosum (CC) anomalies, hypotonia, microcephaly, growth problems and variable facial dysmorphologies. These features illustrate a key role for ZBTB18 in brain development. METHODS: Patients with a pathogenic variant in ZBTB18 were detected by diagnostic whole exome sequencing...

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Identifiers

PMID: 29573576
DOI: 10.1002/mgg3.387
PMCID: PMC6014478

Genes

ZBTB18

Variants

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