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
Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord.
Wongkittichote P et al.
Clinical Genetics, 2023
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report.
Piccolo G et al.
Frontiers in Neurology, 2021
A novel de novo nonsense mutation in ZC4H2 causes Wieacker-Wolff Syndrome.
Wang D et al.
Molecular Genetics & Genomic Medicine, 2020
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
Rnf220 cooperates with Zc4h2 to specify spinal progenitor domains.
Kim J et al.
Development (cambridge, England), 2018
ZC4H2 stabilizes Smads to enhance BMP signalling, which is involved in neural development in Xenopus.
Ma P et al.
Open Biology, 2017
ZC4H2 deletions can cause severe phenotype in female carriers.
Zanzottera C et al.
American Journal of Medical Genetics. Part A, 2017
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
Hirata H et al.
American Journal of Human Genetics, 2013
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