1. Necrotic, ulcerated papules on a newborn male
- Author
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Stanley Chan, Daniel A. Ostler, Sylvia Hsu, Adrienne S. Glaich, Kristen R. Weidner, and Reena Jogi
- Subjects
medicine.medical_specialty ,business.industry ,Ichthyosis ,Hum ,Medicine ,Chondrodysplasia punctata ,Dermatology ,Gene mutation ,business ,medicine.disease - Abstract
BIBLIOGRAPHY Feldmeyer L, Mevorah B, Grzeschik KH, Huber M, Hohl D. Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis). Br J Dermatol 2006;154:766-9. Happle R. X-linked dominant chondrodysplasia punctata. Hum Genet 1979;53:65-73. Happle R. Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata. Clin Genet 1981;19:64-6. Kolb-Maurer A, Grzeschik KH, Haas D, Brocker D, Brocker EB, Hamm H. Conradi-Hunerman-Happle syndrome (X-linked dominant condrodyspasia punctata) confirmed by plasma sterol and mutation analysis. Acta Derm Venereol 2008;88:47-51. Steijlen PM, van Geel M, Vreeburg M, Marcus-Soekarman D, Spaapen LJM, Castelijns FCM, et al. Novel EBP gene mutations in Conrad-Hunermann-Happle syndrome. Br J Dermatol 2007; 157:1225-9. J AM ACAD DERMATOL SEPTEMBER 2009 544 JAAD grand rounds
- Published
- 2009
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