想象特纳综合症。

IF 4.4 3区医学 Q2 GENETICS & HEREDITY

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2025-06-02 DOI:10.1002/ajmg.c.32144

Kirstine Stochholm, Astrid Bruun Rasmussen, Anne Skakkebæk

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引用次数: 0

摘要

特纳综合征（TS）继续呈现诊断挑战医疗保健专业人员。与TS相关的诊断挑战导致延迟治疗和临床护理。在这里，我们通过提供25名丹麦女孩和妇女的临床照片和详细的临床描述，提供了患有TS的女孩和妇女的最新外表。我们的数据突出了患有TS的女孩和妇女在外表和临床表型上的广泛差异。

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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Visualizing Turner Syndrome.

Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 Danish girls and women with TS. Our data highlight the wide variation in physical appearance and clinical phenotype seen in girls and women with TS.

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来源期刊

American Journal of Medical Genetics Part C: Seminars in Medical Genetics 医学-遗传学

CiteScore

7.00

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.