HSD10 disease in a female: A case report and review of literature
Abstract HSD10 disease is a rare X‐linked mitochondrial disorder caused by pathogenic variants in the HSD17B10 gene. The phenotype results from impaired 17β‐hydroxysteroid dehydrogenase 10 (17β‐HSD10) protein structure and function. HSD10 is a multifunctional protein involved in enzymatic degradatio...
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| Auteurs principaux: | , , , , , , , , , , |
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| Format: | article |
| Langue: | EN |
| Publié: |
Wiley
2021
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| Sujets: | |
| Accès en ligne: | https://doaj.org/article/3fbc2e6e2cdf41bfaec3c78531e62197 |
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