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.
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Szakszon K, et al.
J Med Genet. 2024 Jan 19;61(2):132-141. doi: 10.1136/jmg-2022-109030.
J Med Genet. 2024.
PMID: 37580113