A New Mutation Resulting in the Truncation of the TRAF6-Interacting Domain of XEDAR: A Possible Novel Cause of Hypohidrotic Ectodermal Dysplasia

    August 2012 in “ Journal of Medical Genetics ”
    S. Wisniewski, Wieslaw H. Trzeciak
    Studysummary This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
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    Research cited in this study 2

    1. EDA2R Is Associated With Androgenetic Alopecia Journal of Investigative Dermatology · 2008
    2. Myodegeneration in EDA-A2 Transgenic Mice Is Prevented by XEDAR Deficiency Molecular and Cellular Biology · 2004