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Article

Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA - 1 Apr 2017

Zhang H, Yue H, Wang C, Gu J, He J, Fu W, Hu W, Zhang Z

Abstract excerpt

We sought to characterize the phenotypes and identify the SEC24D gene mutations associated with Chinese families of osteogenesis imperfecta (OI). Using whole-exome sequencing, we discovered two novel compound SEC24D mutations of OI patients. Our study extended both the phenotypic and the genotype of the OI patients with SEC24D mutations. INTRODUCTION: To date, only three compound heterozygous mutations in the...

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PMID: 27942778
DOI: 10.1007/s00198-016-3866-2

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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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