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Article

Effectiveness of whole exome sequencing analyses in the molecular diagnosis of osteogenesis imperfecta.

Journal of pediatric endocrinology & metabolism : JPEM - 27 Aug 2024

Evin Ferda, Atik Tahir, Onay Huseyin, Goksen Damla, Darcan Sukran, Cogulu Ozgur, Ozen Samim

Abstract excerpt

OBJECTIVES: Osteogenesis imperfecta (OI) is a group of phenotypically and genetically heterogeneous connective tissue disorders that share similar skeletal anomalies causing bone fragility and deformation. This study aimed to investigate the molecular genetic etiology and to determine the relationship between genotype and phenotype in OI patients with whole exome sequencing (WES). METHODS: Multiplex-Ligation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38953412
DOI: 10.1515/jpem-2024-0058

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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