Clinical and genetic characteristics of 36 children with Joubert syndrome
Background and aimsJoubert syndrome (JBTS, OMIM # 213300) is a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities. Molar tooth sign in brain imaging is the hallmark for diagnosing JBTS. It is a clinically...
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| Main Authors: | , , , , , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2023-07-01T00:00:00Z.
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