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Publication
MEGDEL Syndrome: Expanding the Phenotype and New Mutations
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Advisor(s)
Abstract(s)
Description
Keywords
Brain Brain Diseases Carboxylic Ester Hydrolases Child Deafness Female Humans Metabolism, Inborn Errors Phenotype Syndrome Mutation HDE MTB HDE GEN HDE NEU PED
Pedagogical Context
Citation
Neuropediatrics. 2017 Oct;48(5):382-384
Publisher
Georg Thieme Verlag