TY  - GEN
AU  - Miolo,Gianmaria
AU  - Giuffrida,Maria Grazia
AU  - Corona,Giuseppe
AU  - Capalbo,Anna
AU  - Pivetta,Barbara
AU  - Tessitori,Giovanni
AU  - Bernardini,Laura
TI  - A novel mosaic 1q32.1 microduplication identified through Chromosome Microarray Analysis: narrowing the smallest critical region including KDM5B gene found associated with neurodevelopmetal disorders
SN  - 1878-0849
PY  - 2020///0120
KW  - Adaptor Proteins, Signal Transducing
KW  - genetics
KW  - Child
KW  - Chromosome Duplication
KW  - Chromosomes, Human, Pair 1
KW  - Craniofacial Abnormalities
KW  - Guanine Nucleotide Exchange Factors
KW  - Humans
KW  - Intellectual Disability
KW  - Jumonji Domain-Containing Histone Demethylases
KW  - Male
KW  - Neurodevelopmental Disorders
KW  - Nuclear Proteins
KW  - Repressor Proteins
KW  - Synaptotagmin II
KW  - Twins
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ejmg.2018.10.010
ER  -