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- Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.Hum Mutat. 2019; 40: 2270-2285
- ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.Am J Hum Genet. 2013; 92: 681-695
- ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.Hum Mol Genet. 2015; 24: 4848-4861
- A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation.Brain Dev. 2018; 40: 334-338
- ZC4H2 deletions can cause severe phenotype in female carriers.Am J Med Genet A. 2017; 173: 1358-1363
- Severe otolaryngologic manifestations of arthrogryposis multiplex congenita.Ann Otol Rhinol Laryngol. 1990; 99: 94-97
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Genet Med. 2015; 17: 405-424
- Wieacker-Wolff syndrome with associated cleft palate in a female case.Am J Med Genet A. 2018; 176: 167-170
- A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings.Brain Dev. 2018; 40: 760-767
- A case report of rare ZC4H2-associated disorders associated with three large hernias.Pediatr Int. 2020; 62: 985-986
- A novel de novo nonsense mutation in ZC4H2 causes Wieacker-Wolff Syndrome.Mol Genet Genomic Med. 2020; 8e1100
- Evidence-based guidelines for the use of tracheostomy in critically ill patients.J Crit Care. 2017; 38: 304-318