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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.
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.
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Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. J Med Genet. 2003 Jun; 40(6):441-6.
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PubMed
subject areas
Adolescent
Brain
Cerebellum
Chromosomes, Human, X
Cytoskeletal Proteins
Dosage Compensation, Genetic
Female
Genetic Linkage
GTPase-Activating Proteins
Heterozygote
Humans
Intellectual Disability
Magnetic Resonance Imaging
Male
Mutation
Nuclear Proteins
Pedigree
Phosphoproteins
authors with profiles
William B. Dobyns