Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism
Am J Med Genet A. 2025 Aug 21:e64233. doi: 10.1002/ajmg.a.64233. Online ahead of print. ABSTRACT Nizon-Isidor syndrome is a rare disorder caused by heterozygous variants …