Bertolin, Cinzia

Novel mutations in the L1CAM gene support the complexity of L1 syndrome. [electronic resource] - Journal of the neurological sciences Jul 2010 - 124-6 p. digital

Publication Type: Journal Article

1878-5883

10.1016/j.jns.2010.03.030 doi


Adolescent
Adult
Agenesis of Corpus Callosum
Child
Child, Preschool
Female
Genetic Diseases, X-Linked--genetics
Humans
Hydrocephalus--genetics
Infant
Male
X-Linked Intellectual Disability--genetics
Middle Aged
Mutation
Neural Cell Adhesion Molecule L1--genetics
Phenotype
Spastic Paraplegia, Hereditary--genetics
Syndrome
Thumb--abnormalities
Young Adult