Ontology highlight
ABSTRACT:
SUBMITTER: Jacinto JGP
PROVIDER: S-EPMC7692662 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Jacinto Joana G P JGP Häfliger Irene M IM Veiga Inês M B IMB Letko Anna A Benazzi Cinzia C Bolcato Marilena M Drögemüller Cord C
Animals : an open access journal from MDPI 20201030 11
Classical Ehlers-Danlos syndrome (cEDS) is a heritable connective tissue disorder characterized by variable degrees of skin hyperextensibility and fragility, atrophic scarring, and generalized joint hypermobility. The purpose of this study was to characterize the clinicopathological phenotype of a cEDS-affected Holstein calf and to identify the causative genetic variant associated with the disorder by whole-genome sequencing (WGS). A 3-day-old female Holstein calf was referred because of easily ...[more]