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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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Detalles Bibliográficos
Autores principales: Billington, Emma, Bernard, Geneviève, Gibson, William, Corenblum, Bernard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4465690/
https://www.ncbi.nlm.nih.gov/pubmed/26113998
http://dx.doi.org/10.1155/2015/314594