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Article

Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta.

Journal of human genetics - 1 Jun 2016

Lv Fang, Xu Xiao-Jie, Wang Jian-Yi, Liu Yi, Asan, Wang Jia-Wei, Song Li-Jie, Song Yu-Wen, Jiang Yan, Wang Ou, Xia Wei-Bo, Xing Xiao-Ping, Li Mei

Abstract excerpt

Osteogenesis imperfecta (OI) is a group of clinically and genetically heterogeneous disorders characterized by decreased bone mass and recurrent bone fractures. Transmembrane protein 38B (TMEM38B) gene encodes trimeric intracellular cation channel type B (TRIC-B), mutations of which will lead to the rare form of autosomal recessive OI. Here we detected pathogenic gene mutations in TMEM38B and investigated its...

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PMID: 26911354
DOI: 10.1038/jhg.2016.11

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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