MEGDEL Syndrome: Expanding the Phenotype and New Mutations

Bibliographic Details
Main Author:	Sequeira, S (author)
Other Authors:	Rodrigues, M (author), Jacinto, S (author), Wevers, RA (author), Wortmann, SB (author)
Format:	article
Language:	eng
Published:	2019
Subjects:	Brain Brain Diseases Carboxylic Ester Hydrolases Child Deafness Female Humans Metabolism, Inborn Errors Phenotype Syndrome Mutation HDE MTB HDE GEN HDE NEU PED
Online Access:	http://hdl.handle.net/10400.17/3232
Country:	Portugal
Oai:	oai:repositorio.chlc.min-saude.pt:10400.17/3232

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