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Adult case of 17β-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency due to the p. Arg130Cys mutation of the
HSD17B10
gene: case report
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@article{{ACR}{12342}, author = {Khodawrdi, A., Mekki, C., Lunati-Rozie, A., Funalot, B.}, title = {Adult case of 17β-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency due to the p. Arg130Cys mutation of the <em>HSD17B10</em> gene: case report}, journal = {AME Case Reports}, volume = {10}, number = {0}, year = {2026}, url = {https://acr.amegroups.org/article/view/12342} }