Changes (mutations) in the ZNF148 gene and clinical characterics of patients with these changes have been described in the scientific publications below.
Szakszon K et al., Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations. J Med Genet. 2023; 19;61(2):132-141.
See https://pubmed.ncbi.nlm.nih.gov/37580113/
Stevens SJ et al., Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms. Genome Med. 2016;8(1):131-140. PMID: 27964749.
See https://pubmed.ncbi.nlm.nih.gov/27964749/
Miao C et al., Novel de novo ZNF148 truncating variant causing autism spectrum disorder, attention deficit hyperactivity disorder, and intellectual disability. Clin Genet. 2023; 103(3):364-368.
See https://pubmed.ncbi.nlm.nih.gov/36444493/
Martin E et al., A novel 3q interstitial deletion including GATA2 and ZNF148: A case report. Am J Med Genet A. 2024; 194(8):e63621.
See https://pubmed.ncbi.nlm.nih.gov/38567931/