Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification.

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

SUBMITTER: Jacinto J 

PROVIDER: S-EPMC12465177 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature