TY  - GEN
AU  - Diets,Illja J
AU  - Prescott,Trine
AU  - Champaigne,Neena L
AU  - Mancini,Grazia M S
AU  - Krossnes,Bård
AU  - Frič,Radek
AU  - Kocsis,Kristina
AU  - Jongmans,Marjolijn C J
AU  - Kleefstra,Tjitske
TI  - A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus
SN  - 1530-0366
PY  - 2019///0715
KW  - Adolescent
KW  - Child
KW  - Child, Preschool
KW  - Choroid Plexus
KW  - physiopathology
KW  - Chromatin Assembly and Disassembly
KW  - genetics
KW  - DNA Helicases
KW  - DNA-Binding Proteins
KW  - Exome
KW  - Facies
KW  - Female
KW  - Genetic Association Studies
KW  - Humans
KW  - Hydrocephalus
KW  - Hyperplasia
KW  - Infant
KW  - Intellectual Disability
KW  - Male
KW  - Nuclear Proteins
KW  - Phenotype
KW  - SMARCB1 Protein
KW  - Transcription Factors
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1038/s41436-018-0079-4
ER  -