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Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
Exome sequencing and genetic testing for MODY.
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
Autosomal Dominant Polycystic Kidney Disease and Intracranial Aneurysms: Is There an Increased Risk of Treatment?
Recurrent 16p11.2 microdeletions in autism.
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Recurrent 16p11.2 microdeletions in autism.
Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet. 2008 Feb 15; 17(4):628-38.
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PubMed
subject areas
Autistic Disorder
Base Sequence
Case-Control Studies
Child
Chromosome Breakage
Chromosome Deletion
Chromosomes, Artificial, Bacterial
Chromosomes, Human, Pair 16
DNA Primers
Female
Gene Frequency
Genetic Predisposition to Disease
Humans
In Situ Hybridization, Fluorescence
Male
Microsatellite Repeats
Pedigree
Phenotype
Polymerase Chain Reaction
authors with profiles
T. Conrad Gilliam
William B. Dobyns