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A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle

BACKGROUND: Congenital bovine chondrodysplasia, also known as bulldog calf syndrome, is characterized by disproportionate growth of bones resulting in a shortened and compressed body, mainly due to reduced length of the spine and the long bones of the limbs. In addition, severe facial dysmorphisms i...

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Detalles Bibliográficos
Autores principales: Jacinto, Joana Gonçalves Pontes, Häfliger, Irene Monika, Letko, Anna, Drögemüller, Cord, Agerholm, Jørgen Steen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7487585/
https://www.ncbi.nlm.nih.gov/pubmed/32894162
http://dx.doi.org/10.1186/s13028-020-00548-w