TY  - GEN
AU  - Valetto,Angelo
AU  - Orsini,Alessandro
AU  - Bertini,Veronica
AU  - Toschi,Benedetta
AU  - Bonuccelli,Alice
AU  - Simi,Francesca
AU  - Sammartino,Irene
AU  - Taddeucci,Grazia
AU  - Simi,Paolo
AU  - Saggese,Giuseppe
TI  - Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy
SN  - 1878-0849
PY  - 2012///1017
KW  - Abnormalities, Multiple
KW  - diagnosis
KW  - Child
KW  - Chromosomes, Human, Pair 21
KW  - genetics
KW  - Comparative Genomic Hybridization
KW  - Epilepsy, Generalized
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Microcephaly
KW  - Monosomy
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ejmg.2012.03.011
ER  -