Associated Papers
Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification.
Jacinto J et al.
Genetics, Selection, Evolution : Gse, 2025
A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle.
Jacinto JGP et al.
Acta Veterinaria Scandinavica, 2020
Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in COL2A1.
Güneş N et al.
Molecular Syndromology, 2018
Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species.
Bourneuf E et al.
Scientific Reports, 2017
Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).
Merrick B et al.
American Journal of Medical Genetics. Part A, 2015
Select a paper to view details