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3 Records found.
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1.
Diets, I.J.* et al.: De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism. Am. J. Hum. Genet. 104, 758-766 (2019)
2.
Reynhout, S.* et al.: De novo mutations affecting the catalytic Cα subunit of PP2A (PPP2CA) cause syndromic intellectual disability resembling other PP2A-related neurodevelopmental disorders. Am. J. Hum. Genet. 104, 139-156 (2019)
3.
Reijnders, M.R.F.* et al.: De novo and inherited loss-of-function variants in TLK2: Clinical and genotype-phenotype evaluation of a distinct neurodevelopmental disorder. Am. J. Hum. Genet. 102, 1195-1203 (2018)