Focal Dermal Hypoplasia Due to a Novel Mutation in a Boy with Klinefelter Syndrome
Author:
Affiliation:
1. Newborn Services; Auckland City Hospital; Auckland; New Zealand
2. Genetics Services; Auckland City Hospital; Auckland; New Zealand
3. Paediatric Dermatology; Starship Children's Health; Auckland; New Zealand
Publisher
Wiley
Subject
Dermatology,Pediatrics, Perinatology and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/pde.12031/fullpdf
Reference15 articles.
1. Focal dermal hypoplasia syndrome: an update;Goltz;Arch Dermatol,1992
2. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia;Wang;Nat Genet,2007
3. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia;Grzeschik;Nat Genet,2007
4. Focal dermal hypoplasia;Goltz;Arch Dermatol,1962
5. Focal dermal hypoplasia syndrome: a review of the literature and report of two cases;Goltz;Arch Dermatol,1970
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