TY  - GEN
AU  - Sequeira,Sílvia
AU  - Rodrigues,Márcia
AU  - Jacinto,Sandra
AU  - Wevers,Ron A
AU  - Wortmann,Saskia B
TI  - MEGDEL Syndrome: Expanding the Phenotype and New Mutations
SN  - 1439-1899
PY  - 2018///0605
KW  - Brain
KW  - diagnostic imaging
KW  - Brain Diseases
KW  - Carboxylic Ester Hydrolases
KW  - genetics
KW  - Child
KW  - Deafness
KW  - Female
KW  - Humans
KW  - Metabolism, Inborn Errors
KW  - Mutation
KW  - Phenotype
KW  - Syndrome
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1055/s-0037-1602833
ER  -