TY  - GEN
AU  - Seabra,Catarina M
AU  - Szoko,Nicholas
AU  - Erdin,Serkan
AU  - Ragavendran,Ashok
AU  - Stortchevoi,Alexei
AU  - Maciel,Patrícia
AU  - Lundberg,Kathleen
AU  - Schlatzer,Daniela
AU  - Smith,Janice
AU  - Talkowski,Michael E
AU  - Gusella,James F
AU  - Natowicz,Marvin R
TI  - A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings
SN  - 1552-4833
PY  - 2017///1130
KW  - Abnormalities, Multiple
KW  - Adolescent
KW  - DNA-Binding Proteins
KW  - genetics
KW  - Developmental Disabilities
KW  - Face
KW  - physiopathology
KW  - Gene Duplication
KW  - Hand Deformities, Congenital
KW  - Haploinsufficiency
KW  - Humans
KW  - In Situ Hybridization, Fluorescence
KW  - Intellectual Disability
KW  - Male
KW  - Mutation
KW  - Proteomics
KW  - Transcription Factors
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.a.38327
ER  -