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Review

Tubulinopathies Overview

Nadia Bahi-Buisson  1 , Camille Maillard  1
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
Affiliations
Free Books & Documents
Review

Tubulinopathies Overview

Nadia Bahi-Buisson et al.
Free Books & Documents

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.

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