TY  - GEN
AU  - Hancarova,Miroslava
AU  - Babikyan,Davit
AU  - Bendova,Sarka
AU  - Midyan,Susanna
AU  - Prchalova,Darina
AU  - Shahsuvaryan,Gohar
AU  - Stranecky,Viktor
AU  - Sarkisian,Tamara
AU  - Sedlacek,Zdenek
TI  - A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype
SN  - 2324-9269
PY  - 2020///0619
KW  - Adult
KW  - Alleles
KW  - Armenia
KW  - epidemiology
KW  - Child, Preschool
KW  - Consanguinity
KW  - DNA Mutational Analysis
KW  - Facies
KW  - Genes, Recessive
KW  - Homozygote
KW  - Humans
KW  - Intellectual Disability
KW  - diagnosis
KW  - Intracellular Signaling Peptides and Proteins
KW  - genetics
KW  - Male
KW  - Pedigree
KW  - Phenotype
KW  - Polymorphism, Single Nucleotide
KW  - Exome Sequencing
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/mgg3.865
ER  -