Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification.

IF 3.4 2区医学 Q2 GENETICS & HEREDITY

Orphanet Journal of Rare Diseases Pub Date : 2024-07-19 DOI:10.1186/s13023-024-03269-9

Raymond Dalgleish, Dimitra Micha, Andrea Superti-Furga, Fleur S van Dijk, David O Sillence

引用次数: 0

Abstract

A paper published in Orphanet Journal of Rare Diseases proposes a new classification of osteogenesis imperfecta (OI) based upon underlying pathological mechanisms. The proposed numbering of OI types conflicts with the currently used numbering and is likely to lead to confusion. In addition, classification of OI according to underlying pathogenic mechanisms is not novel.

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致编辑的信Re：成骨不全症的致病机制，分类证据。

发表在《罕见病杂志》（Orphanet Journal of Rare Diseases）上的一篇论文提出了一种基于潜在病理机制的成骨不全症（OI）新分类。拟议的成骨不全症类型编号与目前使用的编号相冲突，很可能导致混淆。此外，根据潜在的致病机制对成骨不全症进行分类并不新颖。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Orphanet Journal of Rare Diseases 医学-医学：研究与实验

CiteScore

6.30

自引率

8.10%

发文量

418

审稿时长

4-8 weeks

期刊介绍： Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports.

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