Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. [electronic resource]
Producer: 20150413Description: 305-14 p. digitalISSN:- 1432-1203
- Base Sequence
- Cells, Cultured
- Cerebellum -- abnormalities
- Consanguinity
- Cyclin-Dependent Kinase 5 -- genetics
- DNA Mutational Analysis
- Developmental Disabilities -- enzymology
- Female
- Genes, Recessive
- Genetic Association Studies
- Genetic Complementation Test
- Homozygote
- Humans
- Infant
- Infant, Newborn
- Lissencephaly -- enzymology
- Male
- Mutation, Missense
- Nervous System Malformations -- enzymology
- Pedigree
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Publication Type: Journal Article
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