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Article

Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa.

European journal of human genetics : EJHG - 1 Oct 2024

Coetzer Kimberly Christine, Zöllner Ekkehard, Moosa Shahida

Abstract excerpt

Osteogenesis imperfecta (OI) is a clinically heterogeneous disorder characterised by skeletal fragility and an increased fracture incidence. It occurs in approximately one in every 15-20,000 births and is known to vary considerably in its severity. This report aimed to use next-generation sequencing (NGS) technology to identify disease genes and causal variants in South African patients with clinical-radiological...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38102329
DOI: 10.1038/s41431-023-01509-3
PMCID: PMC11499597

Genes

COL1A2
COL1A1
FKBP10

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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