Functional analysis of a novel variant in the COL5A1 gene in a Polish patient with the classical type of Ehlers–Danlos syndrome

Ehlers–Danlos syndrome (EDS) is a clinically and genetically diverse group of inherited connective tissue disorders. According to the 2017 International Classification, 13 EDS subtypes are associated with pathogenic variants in 19 genes, most of which are involved in collagen synthesis or structure....

ver descrição completa

Detalhes bibliográficos

Principais autores:	Anna Junkiert-Czarnecka, Karolina Maciak, Magdalena M. Kacprzak, Agnieszka Łobodzińska, Agnieszka Sobczyńska-Tomaszewska, Aneta Jurkiewicz, Monika Gora, Beata Burzynska, Maria Pilarska-Deltow, Olga Haus
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2025-11-01
coleção:	Frontiers in Genetics
Assuntos:	Ehlers–Danlos syndrome next-generation sequencing functional analysis minigene collagen
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1689587/full
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!