New variants in COL5A1 gene among Polish patients with Ehlers-Danlos syndrome: analysis of nine cases

INTRODUCTION: The Ehlers-Danlos syndrome (EDS) is a non-inflammatory, heritable connective tissue disorder divided into 13 types according to the 2017 International Classification of the Ehlers-Danlos syndromes. One of the subtypes of EDS, classical (cEDS), is characterized by joint hypermobility, s...

Descripción completa

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 2019
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6409875/
https://www.ncbi.nlm.nih.gov/pubmed/30858776
http://dx.doi.org/10.5114/ada.2018.79440

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6409875/
https://www.ncbi.nlm.nih.gov/pubmed/30858776
http://dx.doi.org/10.5114/ada.2018.79440

Ejemplares similares