TY  - GEN
AU  - Bertolin,Cinzia
AU  - Boaretto,Francesca
AU  - Barbon,Giovanni
AU  - Salviati,Leonardo
AU  - Lapi,Elisabetta
AU  - Divizia,Maria Teresa
AU  - Garavelli,Livia
AU  - Occhi,Gianluca
AU  - Vazza,Giovanni
AU  - Mostacciuolo,Maria Luisa
TI  - Novel mutations in the L1CAM gene support the complexity of L1 syndrome
SN  - 1878-5883
PY  - 2010///1021
KW  - Adolescent
KW  - Adult
KW  - Agenesis of Corpus Callosum
KW  - Child
KW  - Child, Preschool
KW  - Female
KW  - Genetic Diseases, X-Linked
KW  - genetics
KW  - Humans
KW  - Hydrocephalus
KW  - Infant
KW  - Male
KW  - X-Linked Intellectual Disability
KW  - Middle Aged
KW  - Mutation
KW  - Neural Cell Adhesion Molecule L1
KW  - Phenotype
KW  - Spastic Paraplegia, Hereditary
KW  - Syndrome
KW  - Thumb
KW  - abnormalities
KW  - Young Adult
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1016/j.jns.2010.03.030
ER  -