Evaluation of CNTNAP2 gene rs2107856 polymorphism in Turkish population with pseudoexfoliation syndrome
Sign Up to like & getrecommendations! Published in 2017 at "International Ophthalmology"
DOI: 10.1007/s10792-017-0800-3
Abstract: PurposeTo investigate rs2107856 single-nucleotide polymorphism (SNP) of CNTNAP2 gene in Turkish population with pseudoexfoliation and to correlate clinical characteristics with the genotypic profile.Materials and methodsForty-three patients with pseudoexfoliation syndrome (PXS), 46 patients with pseudoexfoliation glaucoma… read more here.
Keywords: cntnap2 gene; turkish population; polymorphism;
Genetic variants in the CNTNAP2 gene are associated with gender differences among dyslexic children in China
Sign Up to like & getrecommendations! Published in 2018 at "EBioMedicine"
DOI: 10.1016/j.ebiom.2018.07.007
Abstract: Background It is well known that males have a higher prevalence of developmental dyslexia (DD) than females. Although the mechanism underlying this gender difference remains unknown, the contactin-associated protein-like 2 (CNTNAP2) gene, which shows sex-specific… read more here.
Keywords: gender differences; genetic variants; cntnap2 gene; variants cntnap2 ... See more keywords
Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures
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DOI: 10.3389/fped.2020.00550
Abstract: Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A… read more here.
Keywords: intellectual disability; boy; mild intellectual; cntnap2 gene ... See more keywords