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PCYT1A Missense Variant in Vizslas with Disproportionate Dwarfism

Disproportionate dwarfism phenotypes represent a heterogeneous subset of skeletal dysplasias and have been described in many species including humans and dogs. In this study, we investigated Vizsla dogs that were affected by disproportionate dwarfism that we propose to designate as skeletal dysplasi...

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Detalles Bibliográficos
Autores principales: Ludwig-Peisker, Odette, Ansel, Emily, Schweizer, Daniela, Jagannathan, Vidhya, Loechel, Robert, Leeb, Tosso
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777673/
https://www.ncbi.nlm.nih.gov/pubmed/36553621
http://dx.doi.org/10.3390/genes13122354