Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls
Author:
Affiliation:
1. Department of Dermatology; University of Texas Southwestern Medical Center; Dallas Texas
2. GeneDx; Gaithersburg Maryland
3. Pediatric Dermatology; Children's Medical Center; Dallas Texas
Publisher
Wiley
Subject
Dermatology,Pediatrics, Perinatology and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/pde.13227/fullpdf
Reference15 articles.
1. Conradi-Hunermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p. W68C);Lambrecht;Pediatr Dermatol,2014
2. X-linked dominant disorders of cholesterol biosynthesis in man and mouse;Herman;Biochim Biophys Acta,2000
3. Identification of a novel mutation in 3β-hydroxysteroid-▵8-▵7-isomerase in a case of Conradi-Hunermann-Happle syndrome;Becker;Exp Dermatol,2001
4. Novel EBP gene mutations in Conradi-Hunermann-Happle syndrome;Steijlen;Br J Dermatol,2007
5. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris;Smith;Nat Genet,2006
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