Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome
Joubert syndrome (JS) and related disorders are a group of autosomal-recessive conditions sharing the “molar tooth sign” on axial brain MRI, together with cerebellar vermis hypoplasia, ataxia, and psychomotor delay. JS is suggested to be a disorder of cilia function and is part of a spectrum of diso...
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Published in | American journal of human genetics Vol. 83; no. 2; pp. 170 - 179 |
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Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Chicago, IL
Elsevier Inc
01.08.2008
University of Chicago Press Elsevier |
Subjects | |
Online Access | Get full text |
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