Abstract
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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CITATION STYLE
Stochholm, K., Rasmussen, A. B., & Skakkebæk, A. (2025). Visualizing Turner Syndrome. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 199(2), 134–138. https://doi.org/10.1002/ajmg.c.32144
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