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Genotypic Characterization of a Chinese Family with Osteogenesis Imperfecta and Generation of Disease-Specific Induced Pluripotent Stem Cells.

Frontiers in bioscience (Landmark edition) - 12 Dec 2023

Li Dandan, Ou Minglin, Dai Guandong, Zhu Peng, Luo Qi, Chen Jieping, Shah Zahir, Samokhvalov Igor M, Yin Lianghong, Sun Guoping, Tang Donge, Dai Yong

Abstract excerpt

BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by recurring bone fractures. Some OI patients have other clinical manifestations such as growth retardation, dental abnormalities, blue sclera, and hearing loss. The relationship between the phenotype and genotype of OI is indistinct, and there is no cure for OI. Therefore, an appropriate disease model is urgently needed to...

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PMID: 38179771
DOI: 10.31083/j.fbl2812336

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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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