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Review

Neurodegeneration with Brain Iron Accumulation Disorders Overview

Allison Gregory  1 , Manju A Kurian  2 , Jenny Wilson  1 , Susan Hayflick  1
Margaret P Adam, Sarah Bick, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
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Free Books & Documents
Review

Neurodegeneration with Brain Iron Accumulation Disorders Overview

Allison Gregory et al.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Briefly describe the clinical characteristics of neurodegeneration with brain iron accumulation (NBIA);

  2. 2

    Review the genetic causes of NBIA;

  3. 3

    Review the differential diagnosis of NBIA with a focus on genetic conditions;

  4. 4

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

  5. 5

    Review high-level management of NBIA;

  6. 6

    Inform genetic counseling of family members of an individual with NBIA.

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References

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