{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["57(1)"],"submitter":["Jacinto J"],"pubmed_abstract":["Background
Genetic skeletal disorders are a heterogeneous group of syndromic or non-syndromic diseases characterized by abnormal bone, joint or cartilage development. These disorders generally occur sporadically in ruminants. Although a genetic etiology is often suspected, only a limited number of causal variants have been identified and no comprehensive genetic analyses of a cohort of bovine and ovine skeletal developmental defects have been published. The aims of our study were (1) to propose a nosology of genetic skeletal disorders in cattle and sheep and (2) to contribute to the nosology with a number of novel genomically characterized cases.Results
Based on a literature review, the proposed nosology of skeletal disorders in cattle and sheep with a confirmed molecular c"],"journal":["Genetics, selection, evolution : GSE"],"pagination":["51"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12465177"],"repository":["biostudies-literature"],"pubmed_title":["Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification."],"pmcid":["PMC12465177"],"pubmed_authors":["Bolcato M","Kraft DCE","Hafliger IM","Sickinger M","Letko A","Jones A","Otter A","Freick M","Studer E","Lindgren CM","Gentile A","Strugnell B","Floyd T","Soto S","Scholes S","Luhken G","Jacinto J","Staric J","Carty H","Collins R","Weber J","Benazzi C","Diana A","Tammen I","Drogemuller C","O'Rourke BA","Agerholm JS","Richey M","Fuller H"],"additional_accession":[]},"is_claimable":false,"name":"Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification.","description":"Background
Genetic skeletal disorders are a heterogeneous group of syndromic or non-syndromic diseases characterized by abnormal bone, joint or cartilage development. These disorders generally occur sporadically in ruminants. Although a genetic etiology is often suspected, only a limited number of causal variants have been identified and no comprehensive genetic analyses of a cohort of bovine and ovine skeletal developmental defects have been published. The aims of our study were (1) to propose a nosology of genetic skeletal disorders in cattle and sheep and (2) to contribute to the nosology with a number of novel genomically characterized cases.Results
Based on a literature review, the proposed nosology of skeletal disorders in cattle and sheep with a confirmed molecular c","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Sep","modification":"2026-06-03T21:24:18.597Z","creation":"2026-05-01T03:10:50.107Z"},"accession":"S-EPMC12465177","cross_references":{"pubmed":["40999323"],"doi":["10.1186/s12711-025-01002-z"]}}