Data_Sheet_1_Case_Report: Two Monochorionic Twins With a Critically Different Course of Progressive Osseous Heteroplasia.PDF
同卵双生双胞胎进行性骨异位增生病例报告PDF，含临床表型、遗传背景及治疗描述。
基本信息
资源简介
Data_Sheet_1_Case_Report: Two Monochorionic Twins With a Critically Different Course of Progressive Osseous Heteroplasia.PDF
【一句话概览】
本数据集是 figshare 公开的文本数据集，收录 1 个文件、合计 415.76 KB，主题涵盖 progressive osseous heteroplasia、POH、treatment、genetic diseases、monochorionic twins，可用于医学自然语言处理（实体识别、信息抽取等），CC BY 4.0 许可开放获取。
【数据集背景】
本数据集源站标题为《Data_Sheet_1_Case Report: Two Monochorionic Twins With a Critically Different Course of Progressive Osseous Heteroplasia.PDF》。配套论文《Hemimelic progressive osseous heteroplasia. A case report.》发表于 The Journal of Bone & Joint Surgery（1994），DOI：10.2106/00004623-199406000-00016。源站首次发布：2021-12-14。
【数据内容】
源站原始描述：Progressive osseous heteroplasia (POH; OMIM 166350) is a rare autosomal-dominant genetic disorder in which extra-skeletal bone forms within skin and muscle tissue. POH is one of the clinical manifestations of an inactivating mutation in the GNAS gene. GNAS gene alterations are difficult matter to address, as GNAS alleles show genetic imprinting and produce several transcript products, and the same mutation may lead to strikingly different phenotypes. Also, most of the publications concerning POH…
【数据结构与技术规格】
文件数 1 个，合计 415.76 KB。Data_Sheet_1_Case Report: Two Monochorionic Twins With a Critically Different Course of Progressive Osseous Heteroplasia.PDF：application/pdf，415.76 KB。数据集 DOI：10.3389/fped.2021.662669.s001。
【主题与分类】
源站学科分类：Foetal Development and Medicine、Obstetrics and Gynaecology、Paediatrics、Paediatrics and Reproductive Medicine not elsewhere classified。主题标签：progressive osseous heteroplasia、POH、treatment、genetic diseases、monochorionic twins。
【适用方向】
文本类数据可用于医学自然语言处理，如命名实体识别、信息抽取与文本分类。
【获取与许可】
源站页面：https://frontiersin.figshare.com/articles/dataset/Data_Sheet_1_Case_Report_Two_Monochorionic_Twins_With_a_Critically_Different_Course_of_Progressive_Osseous_Heteroplasia_PDF/17198468
使用许可：CC BY 4.0（https://creativecommons.org/licenses/by/4.0/）。
规范引用：Justicia-Grande, Antonio José; Gómez-Ríal, Jose; Rivero-Calle, Irene; Pischedda, Sara; Curras-Tuala, María José; Gómez-Carballa, Alberto; et al. (2021). Data_Sheet_1_Case Report: Two Monochorionic Twins With a Critically Different Course of Progressive Osseous Heteroplasia.PDF. Frontiers. Dataset
【使用注意】
· 源站最后修改于 2023-05-31，引用时请注意版本时效。
下载信息
注册下载
需要注册 Kaggle 账号并登录后下载，适合需要跟踪下载记录和使用 API 的用户。
暂未开放公开下载
无需注册即可直接获取公开样本或文档，适合快速预览和评估数据集质量。
免登录有偿下载
公开数据集受托下载与技术交付服务。
提供高速下载与技术交付服务（收技术服务费，非数据销售）
暂未开放当前数据集主要来源为 Kaggle 公开托管，完整影像包建议通过原始链接或 Kaggle API 获取。
使用方式
数据集获取（Figshare）
- 源站标题：Data_Sheet_1_Case Report: Two Monochorionic Twins With a Critically Different Course of Progressive Osseous Heteroplasia.PDF
- DOI：10.3389/fped.2021.662669.s001
- 发布日期：2021-12-14
- 文件数：1 个
- 文件总体积：415.76 KB
- 源站页面：https://frontiersin.figshare.com/articles/dataset/Data_Sheet_1_Case_Report_Two_Monochorionic_Twins_With_a_Critically_Different_Course_of_Progressive_Osseous_Heteroplasia_PDF/17198468
命令行下载
curl -L -o "Data_Sheet_1_Case Report: Two Monochorionic Twins With a Critically Different Course of Progressive Osseous Heteroplasia.PDF" "https://ndownloader.figshare.com/files/31782971"
文件清单
Data_Sheet_1_Case Report: Two Monochorionic Twins With a Critically Different Course of Progressive Osseous Heteroplasia.PDF（415.76 KB）
文件总体积 415.76 KB（源站 API 实测）。
数据说明
Progressive osseous heteroplasia (POH; OMIM 166350) is a rare autosomal-dominant genetic disorder in which extra-skeletal bone forms within skin and muscle tissue. POH is one of the clinical manifestations of an inactivating mutation in the GNAS gene. GNAS gene alterations are difficult matter to address, as GNAS alleles show genetic imprinting and produce several transcript products, and the same mutation may lead to strikingly different phenotypes. Also, most of the publications concerning POH patients are either clinical depictions of a case (or a case series), descriptions of their genetic background, or a tentative correlation of both clinical and molecular findings. Treatment for POH is rarely addressed, and POH still lacks therapeutic options. We describe a unique case of POH in two monochorionic twins, who presented an almost asymptomatic vs. the severe clinical course, despite sharing the same mutation and genetic background. We also report the results of the therapeutic interventions currently available for heterotopic ossification in the patient with the severe course. This article not only critically supports the assumption that the POH course is strongly influenced by factors beyond genetic background but also remarks the lack of options for patients suffering an orphan disease, even after testing drugs with promising in vitro results.
许可
CC BY 4.0
引用
学术使用请引用 DOI 10.3389/fped.2021.662669.s001（source: https://frontiersin.figshare.com/articles/dataset/Data_Sheet_1_Case_Report_Two_Monochorionic_Twins_With_a_Critically_Different_Course_of_Progressive_Osseous_Heteroplasia_PDF/17198468）。
数据缺失？
依托陕西、四川两大基地，我们与超过十家三甲医院建立直接合作关系，覆盖合规授权、采集治理、专业标注、数据交付的全流程，为AI医疗团队提供即拿即用的高质量临床数据。
⚡️ 需要数据支持或标注服务？立即联系我们获取专业方案。
