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AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
RTTN mutations link primary cilia function to organization of the human cerebral cortex.
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AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. J Med Genet. 2006 Apr; 43(4):334-9.
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PubMed
subject areas
Abnormalities, Multiple
Adaptor Proteins, Signal Transducing
Adaptor Proteins, Vesicular Transport
Amino Acid Motifs
Brain Stem
Cerebellum
Cohort Studies
Cytoskeletal Proteins
Female
Humans
Kidney Diseases, Cystic
Male
Membrane Proteins
Mutation
Pedigree
Proteins
Retinal Degeneration
Syndrome
authors with profiles
William B. Dobyns