Novel Compound Heterozygous Variants in ZNF526 Causing Dentici‐Novelli Neurodevelopmental Syndrome: A Case Report and Literature Review
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DOI: 10.1002/mgg3.70089
Abstract: The ZNF526 gene encodes a ubiquitously expressed Kruppel‐type zinc finger protein crucial in transcriptional regulation. Recent studies suggest that biallelic pathogenic variants in ZNF526 may lead to Dentici‐Novelli neurodevelopmental syndrome, characterized by microcephaly, developmental delay,… read more here.
Keywords: novelli neurodevelopmental; dentici novelli; neurodevelopmental syndrome; novel compound ... See more keywords