Article
Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports.
Clinical and experimental rheumatology - 1 May 2022
Colman Marlies, Castori Marco, Micale Lucia, Ritelli Marco, Colombi Marina, Ghali Neeti, Van Dijk Fleur, Marsili Luisa, Weeks Adrienne, Vandersteen Anthony, Rideout Andrea, Legrand Anne, Frank Michael, Mirault Tristan, Ferraris Alessandro, Di Giosaffatte Niccolò, Grammatico Paola, Grunert Juergen, Frank Charissa, Symoens Sofie, Syx Delfien, Malfait Fransiska
Abstract excerpt
The vast majority of reported (likely) pathogenic missense variants in the genes coding for the fibrillar collagens leads to the substitution of one of the obligatory glycine residues in the Gly-Xaa-Yaa repeat sequence of the triple helical domain. Their phenotypic consequences and deleterious effects have been well-documented. However, with increasing access to molecular diagnostic testing based on...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.