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Professionals

List of Research and Clinical
Publications on ZC4H2

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

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.

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.

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

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

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.

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.

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.

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.

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.

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

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

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

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.