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Article

Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta.

Genes - 2 Sept 2022

Yang Kai, Liu Yan, Wu Jue, Zhang Jing, Hu Hua-Ying, Yan You-Sheng, Chen Wen-Qi, Yang Shu-Fa, Sun Li-Juan, Sun Yong-Qing, Wu Qing-Qing, Yin Cheng-Hong

Abstract excerpt

INTRODUCTION: Osteogenesis imperfecta (OI) is a rare mendelian skeletal dysplasia with autosomal dominant or recessive inheritance pattern, and almost the most common primary osteoporosis in prenatal settings. The diversity of clinical presentation and genetic etiology in prenatal OI cases presents a challenge to counseling yet has seldom been discussed in previous studies. METHODS: Ten cases with suspected fetal...

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Identifiers

PMID: 36140746
DOI: 10.3390/genes13091578
PMCID: PMC9498730

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