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An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.
Edelmann L, Prosnitz A, Pardo S, Bhatt J, Cohen N, Lauriat T, Ouchanov L, González PJ, Manghi ER, Bondy P, Esquivel M, Monge S, Delgado MF, Splendore A, Francke U, Burton BK, McInnes LA. Edelmann L, et al. Among authors: ouchanov l. J Med Genet. 2007 Feb;44(2):136-43. doi: 10.1136/jmg.2006.044537. Epub 2006 Sep 13. J Med Genet. 2007. PMID: 16971481 Free PMC article.
Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.
Nakamine A, Ouchanov L, Jiménez P, Manghi ER, Esquivel M, Monge S, Fallas M, Burton BK, Szomju B, Elsea SH, Marshall CR, Scherer SW, McInnes LA. Nakamine A, et al. Among authors: ouchanov l. Am J Med Genet A. 2008 Mar 1;146A(5):636-43. doi: 10.1002/ajmg.a.31636. Am J Med Genet A. 2008. PMID: 17334992