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Article

Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII.

Clinica chimica acta; international journal of clinical chemistry - 1 Jan 2017

Huang Yanru, Mei Libin, Lv Weigang, Li Haoxian, Zhang Rui, Pan Qian, Tan Hu, Guo Jing, Luo Xiaomei, Chen Chen, Liang Desheng, Wu Lingqian

Abstract excerpt

Osteogenesis imperfecta (OI) is a highly clinically and genetically heterogeneous group of disorders. It is difficult to identify severe OI in the perinatal period. Here, a Chinese woman with a suspected history of fetal OI was referred to our institution at 19weeks of gestation, due to ultrasound inspection during antenatal screening, which revealed bulbous metaphyses, short humeri, and short thick bent femora...

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PMID: 27864101
DOI: 10.1016/j.cca.2016.11.019

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CRTAP

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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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