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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Udgivet i:JIMD Rep
Main Authors: Richardson, Annely, Berry, Gerard T., Garganta, Cheryl, Abbott, Mary-Alice
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2016
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Article
Online adgang: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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