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Article

Application of next‑generation sequencing for molecular diagnosis in a large family with osteogenesis imperfecta type I.

Molecular medicine reports - 1 Nov 2017

Ni Mengxia, Ding Hao, Liu Shuaimei, Zhu Peiran, Wu Qiuyue, Li Weiwei, Zhang Jing, Jiang Weijun, Xia Xinyi

Abstract excerpt

Increased bone fragility and low bone mass are common features of osteogenesis imperfecta (OI), which is associated with connective tissue. Its type is distinguished by clinical phenotypes and molecular genetics. Although fifteen types (I‑XV) of OI have been identified at present, the majority of patients are diagnosed as OI type I‑IV. Type I collagen is responsible for OI type I‑IV, consists of α1 (I) and α2 (I)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28901398
DOI: 10.3892/mmr.2017.7435

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