Variants in the Kallikrein Gene Family and Hypermobile Ehlers-Danlos Syndrome.
Journal
Research square
Titre abrégé: Res Sq
Pays: United States
ID NLM: 101768035
Informations de publication
Date de publication:
10 Jun 2024
10 Jun 2024
Historique:
medline:
1
7
2024
pubmed:
1
7
2024
entrez:
1
7
2024
Statut:
epublish
Résumé
Hypermobile Ehlers-Danlos syndrome (hEDS) is a common heritable connective tissue disorder that lacks a known genetic etiology. To identify genetic contributions to hEDS, whole exome sequencing was performed on families and a cohort of sporadic hEDS patients. A missense variant in
Identifiants
pubmed: 38947032
doi: 10.21203/rs.3.rs-4547888/v1
pmc: PMC11213194
pii:
doi:
Types de publication
Journal Article
Preprint
Langues
eng