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Review

FGFR Craniosynostosis Syndromes Overview

Tara Wenger  1 , Danny Miller  1 , Kelly Evans  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

FGFR Craniosynostosis Syndromes Overview

Tara Wenger et al.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Describe the clinical characteristics of FGFR craniosynostosis syndromes;

  2. 2

    Review the genetic causes of FGFR craniosynostosis syndromes;

  3. 3

    Provide an evaluation strategy to identify the genetic cause of an FGFR craniosynostosis syndrome in a proband;

  4. 4

    Summarize current management recommendations for individuals with an FGFR craniosynostosis syndrome;

  5. 5

    Inform risk assessment and surveillance of at-risk relatives for early detection and treatment of FGFR craniosynostosis syndromes.

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