A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine affected individuals, including six probands: two with de novo deletions, two who inherited the deletion from an affected parent and two with unknown inher...
Main Authors: | Sharp, A, Mefford, H, Li, K, Baker, C, Skinner, C, Stevenson, R, Schroer, R, Novara, F, De Gregori, M, Ciccone, R, Broomer, A, Casuga, I, Wang, Y, Xiao, C, Barbacioru, C, Gimelli, G, Bernardina, B, Torniero, C, Giorda, R, Regan, R, Murday, V, Mansour, S, Fichera, M, Castiglia, L, Failla, P |
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Format: | Journal article |
Language: | English |
Published: |
2008
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