JAAD Grand Rounds quiz∗
Tài liệu tham khảo
Feldmeyer, 2006, Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis), Br J Dermatol, 154, 766, 10.1111/j.1365-2133.2006.07137.x
Happle, 1979, X-linked dominant chondrodysplasia punctata, Hum Genet, 53, 65, 10.1007/BF00289453
Happle, 1981, Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata, Clin Genet, 19, 64, 10.1111/j.1399-0004.1981.tb00669.x
Kolb-Maurer, 2008, Conradi-Hunerman-Happle syndrome (X-linked dominant condrodyspasia punctata) confirmed by plasma sterol and mutation analysis, Acta Derm Venereol, 88, 47, 10.2340/00015555-0337
Steijlen, 2007, Novel EBP gene mutations in Conrad-Hunermann-Happle syndrome, Br J Dermatol, 157, 1225, 10.1111/j.1365-2133.2007.08254.x