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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
Review

Autosomal Recessive Congenital Ichthyosis

Gabriele Richard.

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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References

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    1. Ballin N, Hotz A, Bourrat E et al. Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4. Hum Mutat. 2019;40:2318-33. - PubMed
    1. Blaas HG, Salvesen KÅ, Khnykin D, Jahnsen FL, Eik-Nes SH. Prenatal sonographic assessment and perinatal course of ichthyosis prematurity syndrome. Ultrasound Obstet Gynecol. 2012;39:473-7. - PubMed
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