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An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis.
Evangelidou P, Kousoulidou L, Salameh N, Alexandrou A, Papaevripidou I, Alexandrou IM, Ketoni A, Ioannidou C, Christophidou-Anastasiadou V, Tanteles GA, Sismani C. Evangelidou P, et al. Among authors: ketoni a. Eur J Med Genet. 2020 Dec;63(12):104084. doi: 10.1016/j.ejmg.2020.104084. Epub 2020 Oct 9. Eur J Med Genet. 2020. PMID: 33045407
Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion.
Kitsiou-Tzeli S, Sismani C, Ioannides M, Bashiardes S, Ketoni A, Touliatou V, Kolialexi A, Mavrou A, Kanavakis E, Patsalis PC. Kitsiou-Tzeli S, et al. Among authors: ketoni a. Eur J Med Genet. 2007 Jan-Feb;50(1):73-8. doi: 10.1016/j.ejmg.2006.09.004. Epub 2006 Oct 11. Eur J Med Genet. 2007. PMID: 17194633