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Human Genetics · 2026 · Vol. 145 · Issue 1 · Springer
Weiss-Kruszka syndrome (WSKA; OMIM 618619) is a rare autosomal dominant neurodevelopmental disorder caused by haploinsufficiency of ZNF462, a zinc-finger transcription factor involved in chromatin regulation and early embryonic development. WSKA is characterized by developmental delay, hypotonia, craniofacial dysmorphic features (around 8) and variable congenital anomalies. Genome-wide DNAm profiling was performed on periphera...