Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and Their Genotype-phenotype Correlation.

Samim ÖzenDamla GökşenFerda EvinEsra IşıkHüseyin OnayBilçağ AkgünAysun AtaTahir AtikFüsun DüzcanFerda ÖzkınayŞükran DarcanÖzgür Çoğulu

Published in: Journal of clinical research in pediatric endocrinology (2024)

Genetic etiology was found in 38 (82.6%) of 46 families by targeted NGS analysis. In addition, 9 new variants were assessed in known OI genes which is a significant contribution to the literature.

Keyphrases

copy number
genome wide
end stage renal disease
ejection fraction
cancer therapy
newly diagnosed
systematic review
chronic kidney disease
prognostic factors
peritoneal dialysis
dna methylation
gene expression
drug delivery
patient reported outcomes
bone regeneration
circulating tumor cells