Parrini, E

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. [electronic resource] - Brain : a journal of neurology Jul 2006 - 1892-906 p. digital

Publication Type: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1460-2156

10.1093/brain/awl125 doi


Abnormalities, Multiple--genetics
Adolescent
Adult
Brain--abnormalities
Child
Child, Preschool
Contractile Proteins--genetics
Ehlers-Danlos Syndrome--genetics
Female
Filamins
Fragile X Syndrome--genetics
Genetic Diseases, X-Linked--genetics
Genotype
Humans
Hydrocephalus--genetics
Limb Deformities, Congenital--genetics
Magnetic Resonance Imaging--methods
Male
Microcephaly--genetics
Microfilament Proteins--genetics
Middle Aged
Mutation
Pedigree
Phenotype