Associated Papers
Case Report: A novel missense variant in ZC4H2, c.196C>T p.(Leu66Phe), is associated with a mild, ZC4H2-related X-linked syndromic intellectual disability (ZARD) phenotype.
Garg R et al.
Frontiers in Pediatrics, 2025
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Frints SGM et al.
Human Mutation, 2019
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