Associated Papers
Zinc-Induced Folding and Solution Structure of the Eponymous Novel Zinc Finger from the ZC4H2 Protein.
Harris RE et al.
Biomolecules, 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
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
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
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.
Mak CC et al.
Npj Genomic Medicine, 2018
30109123 (PubMed )
Supplement: 41525_2018_56_MOESM1_ESM.pdf
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
Clinical application of whole-exome sequencing across clinical indications.
Retterer K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
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
Select a paper to view details