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Article

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

Journal of clinical research in pediatric endocrinology - 4 Dec 2024

Özen Samim, Gökşen Damla, Evin Ferda, Işık Esra, Onay Hüseyin, Akgün Bilçağ, Ata Aysun, Atik Tahir, Düzcan Füsun, Özkınay Ferda, Darcan Şükran, Çoğulu Özgür

Abstract excerpt

Objective: Osteogenesis imperfecta (OI) consists of a group of phenotypically and genetically heterogeneous connective tissue disorders that share similar skeletal anomalies causing bone fragility and deformation. The aim was to investigate the molecular genetic etiology and determine the relationship between genotype and phenotype in OI patients using targeted next-generation sequencing (NGS). Methods: A...

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Child, Preschool
Cohort Studies
Genetic Association Studies
High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Osteogenesis Imperfecta

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Identifiers

PMID: 38828893
DOI: 10.4274/jcrpe.galenos.2024.2022-12-8
PMCID: PMC11629724

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