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Severe cases of osteogenesis imperfecta type VIII due to a homozygous mutation in P3H1 (LEPRE1) and review of the literature.

Advances in clinical and experimental medicine : official organ Wroclaw Medical University - 1 Dec 2021

Bala Mehmet Murat, Bala Keziban Aslı

Abstract excerpt

BACKGROUND: Osteogenesis imperfecta (OI) is a genetic disorder that causes skeletal fragility, multiple fractures and several extraskeletal disorders. Most cases of OI are caused by mutations in COL1A1/A2. Osteogenesis imperfecta type VIII typically causes a severe and fatal phenotype that presents at birth with severe osteopenia, congenital fractures and other clinical manifestations. OBJECTIVES: We describe the...

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PMID: 34637196
DOI: 10.17219/acem/141367

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