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Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings
Hydroxysteroid 17-beta dehydrogenase type 10 (HSD10) deficiency (HSD10 disease) is a rare X-linked neurodegenerative condition caused by abnormalities in the HSD17B10 gene. A total of 10 mutations have been reported in the literature since 2000. Described phenotypes include a severe neonatal or prog...
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| Publicado no: | JIMD Rep |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5355379/ https://ncbi.nlm.nih.gov/pubmed/27295195 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_547 |
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