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A novel de novo mutation substantiates KDF1 as a gene causing ectodermal dysplasia.

ectodermal dysplasia (ED) is a group of hereditary disorders affecting the development of ectodermal organs. There are more than 200 types of ED caused by the mutations in approximately 50 genes.1, 2 Nonetheless, the mutations in some genes have been found in only one family affected with ED. Identification of more families with mutations in the same gene would confirm their etiologic roles. This article is protected by copyright. All rights reserved.

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