Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye.

Ceren Alavanda Emine İpek Ceylan Sebile Kılavuz Kismet Çıkı

Published in: Journal of pediatric endocrinology & metabolism : JPEM (2024)

Our study, conducted with patients from the eastern region of Türkiye, demonstrates the genetic heterogeneity in the Turkish population. Simultaneously, our research contributes to genotype-phenotype correlation and expands the genotypic spectrum by identifying novel variants.

Keyphrases

end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
peritoneal dialysis
copy number
south africa
patient reported outcomes
dna methylation