EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia

    June 2024 in “ Genes ”
    Stefan J. Rietmann, Noëlle Cochet-Faivre, Hélène Dropsy … Tosso Leeb
    Studysummary This study identified a missense variant in the EDA gene of a male cat, which likely caused hypohidrotic ectodermal dysplasia, characterized by hair and teeth abnormalities; this represents the first report of such a genetic condition in cats.
    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 2

    1. Significant Correction of Disease After Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia American Journal of Human Genetics · 2007
    2. Ectodermal Dysplasia: Otolaryngologic Manifestations and Management ˜The œLaryngoscope · 2002

    Related research 1

    1. Advances in the Genetic Understanding of Hypohidrotic Ectodermal Dysplasia Expert opinion on orphan drugs · 2017