Tubulinopathies Overview

Excerpt

The purpose of this overview is to:

1. 1

   Describe the clinical characteristics of tubulinopathies.

2. 2

   Review the genetic causes of tubulinopathies.

3. 3

   Review the differential diagnosis of tubulinopathies.

4. 4

   Provide an evaluation strategy to identify the genetic cause of a tubulinopathy in a proband (when possible).

5. 5

   Review general medical management of tubulinopathies.

6. 6

   Inform genetic counseling of family members of an individual with a tubulinopathy.