Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.
Magen, Daniella
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. [electronic resource] - Human genetics Mar 2015 - 305-14 p. digital
Publication Type: Journal Article
1432-1203
10.1007/s00439-014-1522-5 doi
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
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. [electronic resource] - Human genetics Mar 2015 - 305-14 p. digital
Publication Type: Journal Article
1432-1203
10.1007/s00439-014-1522-5 doi
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