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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. doi: 10.1016/j.ajhg.2013.03.021. Epub 2013 Apr 25.
Am J Hum Genet. 2013.
PMID: 23623388
Free PMC article.
A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation.
Okubo Y, Endo W, Inui T, Suzuki-Muromoto S, Miyabayashi T, Togashi N, Sato R, Arai-Ichinoi N, Kikuchi A, Kure S, Haginoya K.
Okubo Y, et al.
Brain Dev. 2018 Apr;40(4):334-338. doi: 10.1016/j.braindev.2017.11.011. Epub 2017 Dec 16.
Brain Dev. 2018.
PMID: 29254829
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Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Frints SGM, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman HH, Hunt D, Mendelsohn BA, Kordaß U, Webster R, Sinnema M, Abdul-Rahman O, Suckow V, Fernández-Jaén A, van Roozendaal K, Stevens SJC, Macville MVE, Al-Nasiry S, van Gassen K, Utzig N, Koudijs SM, McGregor L, Maas SM, Baralle D, Dixit A, Wieacker P, Lee M, Lee AS, Engle EC, Houge G, Gradek GA, Douglas AGL, Longman C, Joss S, Velasco D, Hennekam RC, Hirata H, Kalscheuer VM.
Frints SGM, et al.
Hum Mutat. 2019 Dec;40(12):2270-2285. doi: 10.1002/humu.23841. Epub 2019 Aug 21.
Hum Mutat. 2019.
PMID: 31206972
Free PMC article.
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