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Diagnostic odyssey of a male with 45,X/46,XY mosaicism: case report and review of the literature

Objective: To conduct longitudinal precision clinical phenotyping and management planning of 45,X/46,XY mosaicism case, including in-depth documentation of notable deviations at the male accessory glands level, monitoring and timely handling of potential comorbidities. Design: Case report. Subject:...

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Uloženo v:
Hlavní autoři: Stanislav Tjagur, M.D., Ph.D., Margus Punab, M.D., Ph.D., Avirup Dutta, Ph.D., Maris Laan, Ph.D.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2026-02-01
Edice:F&S Reports
Témata:
45,X/46,XY mosaicism
whole exome sequencing
male infertility
prostate
short stature
On-line přístup:http://www.sciencedirect.com/science/article/pii/S2666334125001552
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