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Review

Autosomal Recessive Congenital Ichthyosis

Gabriele Richard  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

Autosomal Recessive Congenital Ichthyosis

Gabriele Richard.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Briefly describe the clinical characteristics of ARCI;

  2. 2

    Review the genetic causes of ARCI;

  3. 3

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

  4. 4

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

  5. 5

    Review management of ARCI;

  6. 6

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

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