HSD10 disease in a female: A case report and review of literature

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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Autores principales: Jariya Upadia, Nicolette Walano, Grace S. Noh, Jiao Liu, Yuwen Li, Stephen Deputy, Lindsay T. Elliott, Joaquin Wong, Jennifer A. Lee, Raymond C. Caylor, Hans C. Andersson
Formato: article
Lenguaje:EN
Publicado: Wiley 2021
Materias:
2‐methyl‐3‐hydroxy‐butyryl‐CoA dehydrogenase (MHBD) deficiency
HSD10 disease
mitochondrial disorder
skewed X inactivation
X‐chromosome inactivation (XCI)
X‐chromosome inactivation study
Diseases of the endocrine glands. Clinical endocrinology
RC648-665
Genetics
QH426-470
Acceso en línea:https://doaj.org/article/3fbc2e6e2cdf41bfaec3c78531e62197
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https://doaj.org/article/3fbc2e6e2cdf41bfaec3c78531e62197

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