Wieacker-Wolff syndrome

[1]. Cristina Zanzottera, et al. ZC4H2 deletions can cause severe phenotype in female carriers. Am J Med Genet A. 2017 May;173(5):1358-1363. [Content Brief]

[2]. Hiromi Hirata, et al. ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. Am J Hum Genet. 2013 May 2;92(5):681-95. [Content Brief]

[3]. P Wieacker, et al. A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia. Am J Med Genet. 1985 Apr;20(4):597-606. [Content Brief]