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]
Producer: 20200619Description: e865 p. digitalISSN:- 2324-9269
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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