MEGDEL Syndrome: Expanding the Phenotype and New Mutations

Detalhes bibliográficos
Autor principal: Sequeira, S (author)
Outros Autores: Rodrigues, M (author), Jacinto, S (author), Wevers, RA (author), Wortmann, SB (author)
Formato: article
Idioma:eng
Publicado em: 2019
Assuntos:
Brain
Brain Diseases
Carboxylic Ester Hydrolases
Child
Deafness
Female
Humans
Metabolism, Inborn Errors
Phenotype
Syndrome
Mutation
HDE MTB
HDE GEN
HDE NEU PED
Texto completo:http://hdl.handle.net/10400.17/3232
País:Portugal
Oai:oai:repositorio.chlc.min-saude.pt:10400.17/3232

Texto Completo

http://hdl.handle.net/10400.17/3232

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