Guerrini, R
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. [electronic resource]
- Neurology Jul 2004
- 51-6 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1526-632X
10.1212/01.wnl.0000132818.84827.4d doi
Abnormalities, Multiple--genetics
Brain Diseases--genetics
Cell Movement--genetics
Cerebral Ventricles--abnormalities
Child, Preschool
Choristoma--genetics
Chromosomes, Human, X--genetics
Cisterna Magna--abnormalities
Contractile Proteins--deficiency
DNA Mutational Analysis
Dosage Compensation, Genetic
Female
Filamins
Genes, Lethal
Genetic Diseases, X-Linked--diagnosis
Germ-Line Mutation
Hair Follicle--chemistry
Humans
Infant, Newborn
Introns--genetics
Male
Microfilament Proteins--deficiency
Middle Aged
Mosaicism
Mutation, Missense
Neurons--pathology
Pedigree
Phenotype
Point Mutation
RNA Splice Sites--genetics
Sequence Deletion