Parcourir par sujet "CHROMOSOME-2"

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Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay

Papoulidis, I.; Paspaliaris, V.; Papageorgiou, E.; Siomou, E.; Dagklis, T.; Sotiriou, S.; Thomaidis, L.; Manolakos, E. (2015)

A patient with a rare interstitial deletion of chromosomal band 2q33.2q33.3 is described. The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, ...