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.

Hancarova, Miroslava

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. [electronic resource] - Molecular genetics & genomic medicine 09 2019 - e865 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

2324-9269

10.1002/mgg3.865 doi


Adult
Alleles
Armenia--epidemiology
Child, Preschool
Consanguinity
DNA Mutational Analysis
Facies
Genes, Recessive
Homozygote
Humans
Intellectual Disability--diagnosis
Intracellular Signaling Peptides and Proteins--genetics
Male
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Exome Sequencing