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The role of gene encoding collagen secretion protein (SERPINH1) in the pathogenesis of a hypermobile type of Ehlers-Danlos syndrome

INTRODUCTION: Hypermobile (hEDS) Ehlers-Danlos syndrome (EDS) is a non-inflammatory, autosomal dominant connective tissue disorder. hEDS, unlike other types of EDS, has no known genetic aetiology, so diagnosis is conducted based on a person’s medical history, a physical examination, and exclusion of...

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Detalles Bibliográficos
Autores principales: Junkiert-Czarnecka, Anna, Pilarska-Deltow, Maria, Bąk, Aneta, Heise, Marta, Haus, Olga
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Termedia Publishing House 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9993214/
https://www.ncbi.nlm.nih.gov/pubmed/36909907
http://dx.doi.org/10.5114/ada.2022.124107