The following is the updated and complete list of published research articles related to ZC4H2 (gene or protein) and to ZC4H2 Associated Rare Disorders -ZARD- (formerly Wieacker-Wolff Syndrome).

Genotype-Phenotype Correlations and Sex Differences in ZC4H2-Associated Rare Disorder
Peters S, Bearden D, et al. 2024. Pediatr Neurol.

Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita
Frints, Kalscheuer V, et al. 2019. Hum Mut.

Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord
Wongkittichote P, et al. 2023. Clin Genet.

Wieacker-Wolff syndrome with hyperinsulinemic hypoglycemia successfully treated using diazoxide: A case report. 
Kobayashi S, et al. 2025. Clin Pediatr Endocrinol.

Loss of ZC4H2, an Arthrogyposis Multiplex Congenita Associated Gene, Promotes Osteoclastogenesis in Mice.
Zhu L, et al. 2024. Genes.

Loss Treatment of ZC4H2 Variant- Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case Report.
Inotani T, et al. 2024. Tohoku J Exp Med.

Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.
Wayhelova M, et al. 2024. Orphanet J Rare Dis.

Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease.
Lopes-Marques M, et al. 2024. Hum Genomics.

Optic nerve abnormalities in female-restricted Wieacker-Wolff syndrome by novel variant in the ZC4H2 gene.
Ibarra-Ramirez M, et al. 2023. Ophthalmic Genet.

In silico studies, X-ray diffraction analysis and biological investigation of fluorinated pyrrolylated-chalcones in zebrafish epilepsy models.
Mohd Fahmi MSA, et al. 2023. Heliyon.

Loss of Protein Function Causing Severe Phenotypes of Female-Restricted Wieacker Wolff Syndrome due to a Novel Nonsense Mutation in the ZC4H2 Gene
Sun JJ, et al. 2022. Genes.

Variable Phenotypes of ZC4H2-Associated Rare Disease in Six Patients
JY Ahn, et al. 2022. Ann Child Neurol.

Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses
Herman, et al. 2022. Am J Med Genet.

A novel ZC4H2 variant in a female with severe respiratory complications.
Wakabayashi T, et al. 2022. Brain Dev.

Ophthalmic abnormalities in Wieacker-Wolff syndrome
Comlekoglu, et al. 2022. J AAPOS.

Sequential stabilization of RNF220 by RLIM and ZC4H2 during cerebellum development and Shh-group medulloblastoma progression
Li Y, et al. 2022. J Mol Cell Bio.

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort
Megarbane A, et al. 2022. J Neuromuscul Dis.

Wieacker-Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a “de novo” ZC4H2 gene partial deletion
Deneufbourg, et al.  2021. Clin Case Rep.

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, et al. 2021. Ophthalmic Genet.

A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita
Latypova, et al. 2021. Genes.

Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability
E.Z. Taskiran, et al. 2021. J Intellect Disabil Res.

Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report
Piccolo, et al. 2021. Front Neurol.

A case report of rare ZC4H2-associated disorders associated with three large hernias
Nagara, et al. 2020. Pediatr Int.

A novel de novo nonsense mutation in ZC4H2 causes Wieacker-Wolff Syndrome
Wang, et al. 2020. Mol Genet Genomic Med.

The Zinc-Finger Domain Containing Protein ZC4H2 Interacts with TRPV4, Enhancing Channel Activity and Turnover at the Plasma Membrane
Vangeel, et al. 2020. Int J Mol Sci.

The diagnostic workup in children with arthrogryposis multiplex congenita: description of practices through a monocentric cohort and suggestion of recommendations
Le Tanno. 2020. Hum h and path.

A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation
Okubo, et al. 2018.  Brain Dev.

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, et al. 2018.  Brain Dev.

Rnf220 cooperates with Zc4h2 to specify spinal progenitor domains
Kim, et al. 2018. Development.

ZC4H2 deletions can cause severe phenotype in female carriers
Zanzottera, et al. 2017. Am J Med Genet.

Wieacker-Wolff syndrome with associated cleft palate in a female case
Godfrey, et al. 2017. Am J Med Genet.

ZC4H2 stabilizes Smads to enhance BMP signalling, which is involved in neural development in Xenopus
Ma, et al. 2017. Open Biol.

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons
May, Cheol-Hee Kim, et al. 2015. Hum Mol Genet.

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity
Hirata, V. Kalscheuer, et al. 2013. Am J Hum Genet.

Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31
Miles, N. Carpenter. 1991. Am J Med Genet.

A family with severe X‐linked arthrogryposis
C. Hennekam, et al. 1991. Eur J of Ped.

A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia
Wieacker, G. Wolff et al., 1985. Am J Med Genet.