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Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
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Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology. 2005 Jan 25; 64(2):254-62.
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PubMed
subject areas
Adolescent
Adult
Amino Acid Substitution
Brain
Child
Chromosomes, Human, X
Contractile Proteins
DNA Mutational Analysis
Ehlers-Danlos Syndrome
Epilepsy
Exons
Female
Filamins
Humans
Infant
Magnetic Resonance Imaging
Male
Microfilament Proteins
Microsatellite Repeats
Middle Aged
Mutation, Missense
Pedigree
Phenotype
Point Mutation
Polymorphism, Single-Stranded Conformational
Sequence Deletion
authors with profiles
Elizabeth Berry-Kravis