The purpose of this overview is to:
Describe the clinical characteristics of tubulinopathies.
Review the genetic causes of tubulinopathies.
Review the differential diagnosis of tubulinopathies.
Provide an evaluation strategy to identify the genetic cause of a tubulinopathy in a proband (when possible).
Review general medical management of tubulinopathies.
Inform genetic counseling of family members of an individual with a tubulinopathy.
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