A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism.
We describe a mild form of disproportionate dwarfism in Labrador Retrievers, which is not associated with any obvious health problems such as secondary arthrosis. We designate this phenotype as skeletal dysplasia 2 (SD2). It is inherited as a monogenic autosomal recessive trait with incomplete penet...
Guardado en:
Autores principales: | Mirjam Frischknecht, Helena Niehof-Oellers, Vidhya Jagannathan, Marta Owczarek-Lipska, Cord Drögemüller, Elisabeth Dietschi, Gaudenz Dolf, Bernd Tellhelm, Johann Lang, Katriina Tiira, Hannes Lohi, Tosso Leeb |
---|---|
Formato: | article |
Lenguaje: | EN |
Publicado: |
Public Library of Science (PLoS)
2013
|
Materias: | |
Acceso en línea: | https://doaj.org/article/124797f3f0c14cd2a7279e8e5ad860b0 |
Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
Ejemplares similares
-
A frameshift mutation in the cubilin gene (CUBN) in Border Collies with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption).
por: Marta Owczarek-Lipska, et al.
Publicado: (2013) -
Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean Grey cattle.
por: Leonardo Murgiano, et al.
Publicado: (2014) -
A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti.
por: Rachel E Towers, et al.
Publicado: (2013) -
Looking the cow in the eye: deletion in the NID1 gene is associated with recessive inherited cataract in Romagnola cattle.
por: Leonardo Murgiano, et al.
Publicado: (2014) -
<i>LAMA2</i> Nonsense Variant in an Italian Greyhound with Congenital Muscular Dystrophy
por: Matthias Christen, et al.
Publicado: (2021)