A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, Zuffardi O, Chen C, Schwartz CE, Eichler EE.
Sharp AJ, et al. Among authors: castiglia l.
Nat Genet. 2008 Mar;40(3):322-8. doi: 10.1038/ng.93. Epub 2008 Feb 17.
Nat Genet. 2008.
PMID: 18278044
Free PMC article.