Gonosomal Mosaicism for a Novel <i>COL5A1</i> Pathogenic Variant in Classic Ehlers-Danlos Syndrome

Gonosomal Mosaicism for a Novel <i>COL5A1</i> Pathogenic Variant in Classic Ehlers-Danlos Syndrome

(1) Background: Classic Ehlers-Danlos syndrome (cEDS) is a heritable connective tissue disorder characterized by joint hypermobility and skin hyperextensibility with atrophic scarring. Many cEDS individuals carry variants in either the <i>COL5A1</i> or <i>COL5A2</i> genes. Mo...

Full description

Bibliographic Details
Main Authors: Lucia Micale, Thomas Foiadelli, Federica Russo, Luigia Cinque, Francesco Bassanese, Matteo Granatiero, Carmela Fusco, Salvatore Savasta, Marco Castori
Format: Article
Language:English
Published: MDPI AG 2021-11-01
Series:Genes
Subjects:
classic Ehlers-Danlos syndrome
<i>COL5A1</i>
mosaicism
Online Access:https://www.mdpi.com/2073-4425/12/12/1928

Internet

https://www.mdpi.com/2073-4425/12/12/1928

Similar Items