Article
Prevalence and genotypic distribution of non-epidermolytic ichthyosis in Italian Golden Retrievers.
PloS one - 1 Jan 2026
De Iorio Maria Grazia, Polli Michele, Ghilardi Sara, Frattini Stefano, Bagardi Mara, Paganelli Alessandra, Cozzi Maria Cristina, Seghrouchni Kenza, Brambilla Paola Giuseppina, Minozzi Giulietta
Abstract excerpt
Non-epidermolytic ichthyosis (NEI) is a hereditary skin disorder affecting several dog breeds, most notably the Golden Retriever. It is primarily caused by a loss-of-function variant in the PNPLA1 gene, while a second, less common form is associated with a deletion in the ABHD5 gene. This retrospective study aimed to assess the prevalence and temporal trends of both mutations in Golden Retrievers tested in Italy...
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