Associated Papers
Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis.
Safka Brozkova D et al.
Human Genomics, 2026
Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.
Pérez-Vidarte F et al.
Annals of Clinical and Translational Neurology, 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
Diagnostic yield of genetic testing in 324 infants with hypotonia.
Sharma S et al.
Clinical Genetics, 2021
A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome.
Godfrey D et al.
Ophthalmic Genetics, 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
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
Cao Y et al.
Genome Medicine, 2019
Select a paper to view details