TY  - GEN
AU  - Barrie,Elizabeth S
AU  - Cottrell,Catherine E
AU  - Gastier-Foster,Julie
AU  - Hickey,Scott E
AU  - Patel,Anup D
AU  - Santoro,Stephanie L
AU  - Alfaro,Maria P
TI  - Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene
SN  - 1878-0849
PY  - 2020///1119
KW  - Adolescent
KW  - Child
KW  - Codon, Nonsense
KW  - Epilepsy
KW  - genetics
KW  - Female
KW  - Frameshift Mutation
KW  - Genetic Association Studies
KW  - Genotype
KW  - Guanine Nucleotide Exchange Factors
KW  - Heredity
KW  - Heterozygote
KW  - Humans
KW  - Intellectual Disability
KW  - diagnostic imaging
KW  - Male
KW  - Mosaicism
KW  - Muscle Hypotonia
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phenotype
KW  - Speech-Language Pathology
KW  - Exome Sequencing
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ejmg.2019.103735
ER  -