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Review

Type II Collagen Disorders Overview

Pernille Axél Gregersen  1 , Ravi Savarirayan  2
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 ].
Affiliations
Free Books & Documents
Review

Type II Collagen Disorders Overview

Pernille Axél Gregersen et al.
Free Books & Documents

Excerpt

The purpose of this GeneReview is to:

  1. 1

    Describe the clinical characteristics of type II collagen disorders;

  2. 2

    Provide an evaluation strategy to identify the genetic cause of a type II collagen disorder in a proband;

  3. 3

    Review the differential diagnosis of type II collagen disorders with a focus on genetic conditions;

  4. 4

    Review management of type II collagen disorders;

  5. 5

    Inform genetic counseling of family members of an individual with a type II collagen disorder.

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References

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