| 1 | WRWF, ZC4H2 |
| A novel de novo nonsense mutation in ZC4H2 causes Wieacker-Wolff Syndrome. | |
| Wang D, Hu D, Guo Z, Hu R, Wang Q, Liu Y, Liu M, Meng Z, Yang H, Zhang Y, Cai F, Zhou W, Song W. | |
| Mol Genet Genomic Med. Feb;8(2):e1100. doi: 10.1002/mgg3.1100. Epub 2019 Dec 30. 2020 | |
| 2 | WRWF, ZC4H2 |
| ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. | |
| Hirata H, Nanda I, van Riesen A, McMichael G, Hu H, Hambrock M, Papon MA, Fischer U, Marouillat S, Ding C, Alirol S, Bienek M, Preisler-Adams S, Grimme A, Seelow D, Webster R, Haan E, MacLennan A, Stenzel W, Yap TY, Gardner A, Nguyen LS, Shaw M, Lebrun N, Haas SA, Kress W, Haaf T, Schellenberger E, Chelly J, Viot G, Shaffer LG, Rosenfeld JA, Kramer N, Falk R, El-Khechen D, Escobar LF, Hennekam R, Wieacker P, Hübner C, Ropers HH, Gecz J, Schuelke M, Laumonnier F, Kalscheuer VM. | |
| Am J Hum Genet 92(5):681-95. doi: 10.1016/j.ajhg.2013.03.021. Epub 2013 Apr 25. 2013 | |
| 3 | WRWF |
| A family with severe X-linked arthrogryposis. | |
| Hennekam RC, Barth PG, Van Lookeren Campagne W, De Visser M, Dingemans KP. | |
| Eur J Pediatr 150(9):656-60. Review. 1991 | |