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Review

Primary Familial Brain Calcification Overview

Alexander Balck  1   2 , Christine Klein  1   2 , Ana Westenberger  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 ].
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Review

Primary Familial Brain Calcification Overview

Alexander Balck et al.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Briefly describe the clinical characteristics of primary familial brain calcification;

  2. 2

    Review the genetic causes of primary familial brain calcification;

  3. 3

    Review the differential diagnosis of primary familial brain calcification with a focus on genetic and treatable conditions;

  4. 4

    Provide an evaluation strategy to identify the genetic cause of primary familial brain calcification in a proband;

  5. 5

    Inform genetic counseling of family members of an individual with genetically confirmed primary familial brain calcification.

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References

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