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A de novo variant in the keratin 1 gene (KRT1) in a Chinese shar-pei dog with severe congenital cornification disorder and non-epidermolytic ichthyosis

A 3-months old Chinese shar-pei puppy with ichthyosis was investigated. The dog showed generalized scaling, alopecia and footpad lesions. Histopathological examinations demonstrated a non-epidermolytic hyperkeratosis. The parents of the affected puppy did not show any skin lesions. A trio whole geno...

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Detalles Bibliográficos
Autores principales: Affolter, Verena K., Kiener, Sarah, Jagannathan, Vidhya, Nagle, Terry, Leeb, Tosso
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9576078/
https://www.ncbi.nlm.nih.gov/pubmed/36251712
http://dx.doi.org/10.1371/journal.pone.0275367