Associated Papers
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
ZC4H2 stabilizes RNF220 to pattern ventral spinal cord through modulating Shh/Gli signaling.
Ma P et al.
Journal of Molecular Cell Biology, 2020
The Zinc-Finger Domain Containing Protein ZC4H2 Interacts with TRPV4, Enhancing Channel Activity and Turnover at the Plasma Membrane.
Vangeel L et al.
International Journal of Molecular Sciences, 2020
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
A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings.
Kondo D et al.
Brain & Development, 2018
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