Associated Papers
A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.
Li N et al.
Neurogenetics, 2023
Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.
van der Schoot V et al.
Molecular Genetics & Genomic Medicine, 2018
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
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