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A classification scheme for malformations of cortical development.
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
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Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet. 2008 Aug; 83(2):170-9.
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PubMed
subject areas
Abnormalities, Multiple
ADP-Ribosylation Factors
Animals
Brain Diseases
Chromosome Mapping
Cilia
Computational Biology
Conserved Sequence
Genetic Predisposition to Disease
Humans
Molecular Sequence Data
Mutation
Neurons
Syndrome
Zebrafish
authors with profiles
William B. Dobyns