Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. [electronic resource]
Producer: 20060803Description: 1892-906 p. digitalISSN:- 1460-2156
- 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
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Publication Type: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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