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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E, Monroe GR, Lai A, Putoux A, Allias F, Ambusaidi Q, Ambrozaityte L, Cimbalistienė L, Delafontaine J, Guex N, Hashem M, Kurdi W, Jamuar SS, Ying LJ, Bonnard C, Pippucci T, Pradervand S, Roechert B, van Hasselt PM, Wiederkehr M, Wright CF; DDD Study; Xenarios I, van Haaften G, Shaw-Smith C, Schindewolf EM, Neerman-Arbez M, Sanlaville D, Lesca G, Guibaud L, Reversade B, Chelly J, Kučinskas V, Alkuraya FS, Reymond A. Gueneau L, et al. Among authors: preiksaitiene e. Am J Hum Genet. 2018 Jan 4;102(1):116-132. doi: 10.1016/j.ajhg.2017.12.002. Epub 2017 Dec 28. Am J Hum Genet. 2018. PMID: 29290337 Free PMC article.
De novo 5q35.5 duplication with clinical presentation of Sotos syndrome.
Kasnauskiene J, Cimbalistiene L, Ciuladaite Z, Preiksaitiene E, Kučinskienė ZA, Hettinger JA, Sismani C, Patsalis PC, Kučinskas V. Kasnauskiene J, et al. Among authors: preiksaitiene e. Am J Med Genet A. 2011 Oct;155A(10):2501-7. doi: 10.1002/ajmg.a.34179. Am J Med Genet A. 2011. PMID: 21998857
51 results