Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.

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BACKGROUND: Recurrent 15q13.3 microdeletions were recently identified with identical proximal (BP4) and distal (BP5) breakpoints and associated with mild to moderate mental retardation and epilepsy. METHODS: To assess further the clinical implications of this novel 15q13.3 microdeletion syndrome, 18...

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Автори: van Bon, B, Mefford, H, Menten, B, Koolen, D, Sharp, A, Nillesen, WM, Innis, J, de Ravel, T, Mercer, C, Fichera, M, Stewart, H, Connell, L, Ounap, K, Lachlan, K, Castle, B, Van der Aa, N, van Ravenswaaij, C, Nobrega, M, Serra-Juhé, C, Simonic, I, de Leeuw, N, Pfundt, R, Bongers, E, Baker, C, Finnemore, P
Формат: Journal article
Мова:English
Опубліковано: 2009

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