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Year Number of Results
1991 2
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2019 5
2020 4
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Related Articles by Review for PMID: 23623388

19 results

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Page 1
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. Hirata H, et al. Am J Hum Genet. 2013 May 2;92(5):681-95. doi: 10.1016/j.ajhg.2013.03.021. Epub 2013 Apr 25. Am J Hum Genet. 2013. PMID: 23623388 Free PMC article.
A family with severe X-linked arthrogryposis.
Hennekam RC, Barth PG, Van Lookeren Campagne W, De Visser M, Dingemans KP. Hennekam RC, et al. Eur J Pediatr. 1991 Jul;150(9):656-60. doi: 10.1007/BF02072628. Eur J Pediatr. 1991. PMID: 1915520 Review.
Familial Gordon syndrome associated with a PIEZO2 mutation.
Alisch F, Weichert A, Kalache K, Paradiso V, Longardt AC, Dame C, Hoffmann K, Horn D. Alisch F, et al. Am J Med Genet A. 2017 Jan;173(1):254-259. doi: 10.1002/ajmg.a.37997. Epub 2016 Oct 7. Am J Med Genet A. 2017. PMID: 27714920 Review.
19 results