Genotype-Phenotype Correlation in Boys with X-Linked Hypohidrotic Ectodermal Dysplasia

    April 2014 in “ American Journal of Medical Genetics ”
    Kristin Burger, Anne-Theres Schneider, Sigrun Wohlfart … Holm Schneider
    Studysummary The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.
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    Research cited in this study 5

    1. Characterization of X-Linked Hypohidrotic Ectodermal Dysplasia Hair and Sweat Gland Phenotypes Using Phototrichogram Analysis and Live Confocal Imaging American Journal of Medical Genetics - Part A · 2013
    2. Androgenetic Alopecia: Identification Of Four Genetic Risk Loci And Evidence For The Contribution Of WNT Signaling To Its Etiology Journal of Investigative Dermatology · 2013
    3. Enhanced Ectodysplasin-A Receptor Signaling Alters Multiple Fiber Characteristics to Produce the East Asian Hair Form Human mutation · 2008
    4. Significant Correction of Disease After Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia American Journal of Human Genetics · 2007
    5. Methods of Evaluating Hair Growth Australasian Journal of Dermatology · 2003

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    1. Genotype-Phenotype Correlation in Boys with X-Linked Hypohidrotic Ectodermal Dysplasia American Journal of Medical Genetics · 2014