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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
Citation
Neuropediatrics. 2017 Oct;48(5):382-384
Publisher
Georg Thieme Verlag