Magen, Daniella <br/><br/>
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 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1432-1203 
<br/><br/><label>Standard No.: </label>10.1007/s00439-014-1522-5  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Base Sequence<br/>Cells, Cultured<br/>Cerebellum--abnormalities<br/>Consanguinity<br/>Cyclin-Dependent Kinase 5--genetics<br/>DNA Mutational Analysis<br/>Developmental Disabilities--enzymology<br/>Female<br/>Genes, Recessive<br/>Genetic Association Studies<br/>Genetic Complementation Test<br/>Homozygote<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Lissencephaly--enzymology<br/>Male<br/>Mutation, Missense<br/>Nervous System Malformations--enzymology<br/>Pedigree