Article
Update on ectodermal dysplasias clinical classification.
American journal of medical genetics. Part A - 1 Oct 2014
Pagnan Nina Amália Brancia, Visinoni Átila Fernando
Abstract excerpt
Monogenic genetic disorders constitute a very large group of rare conditions, each of which is defined by a characteristic combination of phenotypic features. Their enormous clinical variability and their etiological heterogeneity may result in difficulties for the establishment of a syndromic diagnosis. In this context, classifications were proposed for different nosological groups, including ectodermal...
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