Cross-Sectional Study Evaluating Skin, Hair, Nail, and Bone Disease in Patients with Focal Dermal Hypoplasia
Author:
Affiliation:
1. Department of Dermatology; Brigham and Women's Hospital; Boston Massachusetts
2. Harvard Medical School; Boston Massachusetts
3. Dermatology Program; Division of Immunology; Boston Children's Hospital; Boston Massachusetts
Funder
National Foundation for Ectodermal Dysplasias
Publisher
Wiley
Subject
Dermatology,Pediatrics, Perinatology and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/pde.13056/fullpdf
Reference5 articles.
1. Focal dermal hypoplasia syndrome. An update;Goltz;Arch Dermatol,1992
2. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia;Grzeschik;Nat Genet,2007
3. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia;Wang;Nat Genet,2007
4. Mosaic focal dermal hypoplasia caused by a novel somatic mutation in PORCN gene detected in affected skin;Sheu;Br J Dermatol,2015
5. Focal dermal hypoplasia syndrome. Case report and literature review;Hall;J Am Acad Dermatol,1983
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