Genetic testing in ectodermal dysplasia: Availability, clinical utility, and the nuts and bolts of ordering a genetic test
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32870/fullpdf
Reference15 articles.
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2. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling;Döffinger;Nat Genet,2001
3. Focal dermal hypoplasia syndrome. An update;Goltz;Arch Dermatol,1992
4. New quality assurance standards for rare disease testing;Grody;Genet Med,2008
5. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia;Grzeschik;Nat Genet,2007
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2. Rare Pediatric Genetic Case Report of X-linked Hypohidrotic Ectodermal Dysplasia Type 1;Cureus;2023-12-02
3. Announcing a new manuscript category for the American Journal of Medical Genetics Part A: Dispatches from Biotech;American Journal of Medical Genetics Part A;2020-07-23
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