MEGDEL Syndrome: Expanding the Phenotype and New Mutations.

Sequeira, Sílvia

MEGDEL Syndrome: Expanding the Phenotype and New Mutations. [electronic resource] - Neuropediatrics 10 2017 - 382-384 p. digital

Publication Type: Case Reports; Journal Article

1439-1899

10.1055/s-0037-1602833 doi


Brain--diagnostic imaging
Brain Diseases--diagnostic imaging
Carboxylic Ester Hydrolases--genetics
Child
Deafness--genetics
Female
Humans
Metabolism, Inborn Errors--diagnostic imaging
Mutation
Phenotype
Syndrome