ZBTB18

Publications

Depienne C et al. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. Hum Genet. 2017;136(4):463-479. PMID: 28283832; PMCID: PMC5360844.

Ehmke N et al. A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6-year-old female. Am J Med Genet A. 2017;173(5):1251-1256. PMID: 28345786.

Hemming IA et al. Disease-associated missense variants in ZBTB18 disrupt DNA binding and impair the development of neurons within the embryonic cerebral cortex. Hum Mutat. 2019;40(10):1841-1855. PMID: 31112317.

de Munnik SA et al. A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome. Eur J Hum Genet. 2014 Jun;22(6):844-6. PMID: 24193349; PMCID: PMC4023223.

Van der Schoot V et al. Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene. Mol Genet Genomic Med. 2018 May;6(3):393-400. PMID: 29573576; PMCID: PMC6014478.