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
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

Auteurs

Classifications MeSH