Associated Papers
Zinc-Induced Folding and Solution Structure of the Eponymous Novel Zinc Finger from the ZC4H2 Protein.
Harris RE et al.
Biomolecules, 2025
The D126G mutation contributes to the early-onset X-linked juvenile retinoschisis.
Suvannaboon R et al.
Scientific Reports, 2025
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.
Akgun-Dogan O et al.
Frontiers in Genetics, 2024
38560291 (PubMed )
Supplement: Table2.XLSX › Sheet1
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
Sequential stabilization of RNF220 by RLIM and ZC4H2 during cerebellum development and Shh-group medulloblastoma progression.
Li Y et al.
Journal of Molecular Cell Biology, 2022
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.
Taşkıran EZ et al.
Journal of Intellectual Disability Research : Jidr, 2021
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
Wieacker-Wolff syndrome with associated cleft palate in a female case.
Godfrey ND et al.
American Journal of Medical Genetics. Part A, 2018
ZC4H2 deletions can cause severe phenotype in female carriers.
Zanzottera C et al.
American Journal of Medical Genetics. Part A, 2017
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.
May M et al.
Human Molecular Genetics, 2015
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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