Advances in the Genetic Understanding of Hypohidrotic Ectodermal Dysplasia

    November 2017 in “ Expert opinion on orphan drugs ”
    Toshihide Higashino, John Y.W. Lee, John A. McGrath
    Studysummary This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
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    Research cited in this study 9

    1. WNT10A Mutation Causes Ectodermal Dysplasia by Impairing Progenitor Cell Proliferation and KLF4-Mediated Differentiation Nature Communications · 2017
    2. Tissue Expansion for Correction of Alopecia in a Child with Hypohidrotic Ectodermal Dysplasia Journal of dermatology · 2016
    3. Molecular Basis of Hypohidrotic Ectodermal Dysplasia: An Update Journal of Applied Genetics · 2015
    4. Genotype-Phenotype Correlation in Boys with X-Linked Hypohidrotic Ectodermal Dysplasia American Journal of Medical Genetics · 2014
    5. Topical Minoxidil Treatment for Congenital Alopecia in Hypohidrotic Ectodermal Dysplasia 2013
    6. A New Mutation Resulting in the Truncation of the TRAF6-Interacting Domain of XEDAR: A Possible Novel Cause of Hypohidrotic Ectodermal Dysplasia Journal of Medical Genetics · 2012
    7. EDA2R Is Associated With Androgenetic Alopecia Journal of Investigative Dermatology · 2008
    8. Significant Correction of Disease After Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia American Journal of Human Genetics · 2007
    9. Edar Signaling in the Control of Hair Follicle Development ˜The œjournal of investigative dermatology. Symposium proceedings/˜The œJournal of investigative dermatology symposium proceedings · 2005