成骨不完全性XIV型TMEM38B剪接位点新变异。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2023-09-11 DOI:10.1038/s41439-023-00252-x

Yoshihiko Kodama, Satoru Meiri, Tomoko Asada, Misayo Matsuyama, Shinya Makino, Minayo Iwai, Masatoshi Yamaguchi, Hiroshi Moritake

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引用次数: 0

摘要

成骨不全症(OI)是一种罕见的遗传性疾病，以脆骨为特征。在本病例报告中，我们描述了一位患有XIV型成骨不全的患者，其TMEM38B基因中存在一种新的剪接位点变异。需要进一步的研究来更好地了解XIV型OI表型与该变异之间的关系。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV.

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Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV.

Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by brittle bones. In this case report, we describe a patient who suffered from OI type XIV with a novel splice site variant in the TMEM38B gene. Further research is needed to better understand the relationship between the phenotype of OI type XIV and this variant.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks