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Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature

Introduction. 4H leukodystrophy is an autosomal recessive RNA polymerase III-related leukodystrophy, characterized by hypomyelination, with or without hypodontia (or other dental abnormalities) and hypogonadotropic hypogonadism. Case Presentation. We describe a 28-year-old female who presented with...

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Podrobná bibliografie
Vydáno v:Case Rep Endocrinol
Hlavní autoři: Billington, Emma, Bernard, Geneviève, Gibson, William, Corenblum, Bernard
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi Publishing Corporation 2015
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4465690/
https://ncbi.nlm.nih.gov/pubmed/26113998
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/314594
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