A Heterozygous Missense Variant in the <i>COL5A2</i> in Holstein Cattle Resembling the Classical Ehlers–Danlos Syndrome

A Heterozygous Missense Variant in the <i>COL5A2</i> in Holstein Cattle Resembling the Classical Ehlers–Danlos Syndrome

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 c...

Full description

Bibliographic Details
Main Authors: Joana G. P. Jacinto, Irene M. Häfliger, Inês M. B. Veiga, Anna Letko, Cinzia Benazzi, Marilena Bolcato, Cord Drögemüller
Format: Article
Language:English
Published: MDPI AG 2020-10-01
Series:Animals
Subjects:
<i>Bos taurus</i>
collagen dysplasia
collagen V
connective tissue
precision medicine
skin fragility
Online Access:https://www.mdpi.com/2076-2615/10/11/2002

Internet

https://www.mdpi.com/2076-2615/10/11/2002

Similar Items