Article
Dermatologic findings of focal dermal hypoplasia (Goltz syndrome).
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Mar 2016
Bree Alanna F, Grange Dorothy K, Hicks M John, Goltz Robert W
Abstract excerpt
Goltz syndrome, caused by mutations in PORCN, is an X-linked dominant ectodermal dysplasia which is also known as focal dermal hypoplasia. This name is derived from the predominant pathologic skin findings of the syndrome. Nineteen Goltz-affected participants attended a multidisciplinary scientific and clinical conference convened by the National Foundation for Ectodermal Dysplasia which allowed further...
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