Teaching NeuroImages: Hypomyelinating leukodystrophy with hypodontia due to POLR3B: Look into a leukodystrophy's mouth

An 18-year-old German woman presented with progressive cerebellar ataxia since early childhood, delayed cognitive development, and hypogonadotropic hypogonadism. MRI demonstrated diffuse cerebral hypomyelination, cerebellar atrophy, and thin corpus callosum; X-ray revealed persistent milk teeth and...

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Bibliografiske detaljer
Main Authors: Synofzik, Matthis, Bernard, Geneviève, Lindig, Tobias, Gburek-Augustat, Janina
Format: Artigo
Sprog:Inglês
Udgivet: Lippincott Williams & Wilkins 2013
Fag:
Resident and Fellow Section
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3812106/
https://ncbi.nlm.nih.gov/pubmed/24190003
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/01.wnl.0000435300.64776.7e
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