NIPAL4 Deletion Identified in an American Bully with Autosomal Recessive Congenital Ichthyosis and Response to Topical Therapy

    February 2019 in “ Veterinary medicine and science ”
    Amaury Briand, Noëlle Cochet-Faivre, Edouard Reyes‐Gomez … Lucie Chevallier
    Studysummary This study reports the first identification of the deleterious NIPAL 4 variant, associated with autosomal recessive congenital ichthyosis, in an American Bully and describes its clinical management and follow-up.
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    Research cited in this study 2

    1. Topical Polyhydroxy Acid Treatment for Autosomal Recessive Congenital Ichthyosis in the Golden Retriever: A Prospective Pilot Study Veterinary dermatology · 2018
    2. Autosomal Recessive Congenital Ichthyosis Due to PNPLA1 Mutation in a Golden Retriever–Poodle Cross-Bred Dog and the Effect of Topical Therapy Veterinary dermatology · 2016

    Related research 1

    1. Follicular Ichthyosis: A Study of Four Patients with Congenital Follicular Hyperkeratosis British journal of dermatology/British journal of dermatology, Supplement · 1984