Associated Papers
A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.
Li N et al.
Neurogenetics, 2023
Nervous system regulated by POZ domain Krüppel-like zinc finger (POK) family transcription repressor RP58.
Okado H
British Journal of Pharmacology, 2021
Regulation of brain development and brain function by the transcriptional repressor RP58.
Okado H
Brain Research, 2019
Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.
van der Schoot V et al.
Molecular Genetics & Genomic Medicine, 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.
Cohen JS et al.
Clinical Genetics, 2017
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Depienne C et al.
Human Genetics, 2017
A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.
de Munnik SA et al.
European Journal of Human Genetics : Ejhg, 2014
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