ea0099ep420 | Adrenal and Cardiovascular Endocrinology | ECE2024
Jan Domański
, Emilia Babula
, Iga Poprawa
, Aleksandra Żuk-Łapan
, Jakub Podstawka
, Latocha Julia
, Szymańska Zuzanna
, Małgorzata Zagozda
, Juliusz Wilk
, Tomasz Korcz
, Małgorzata Cicha-Brzezińska
, Anna Siejka
, Bartosz Mruk
, Jerzy Walecki
, Kaluza Bernadetta
, Edward Franek
Background: Ehlers–Danlos syndrome is a group of genetic conditions characterized by alterations in connective tissue structure, which produces various symptoms. Some subtypes of this syndrome are associated with structural alterations of tenascin-X, an extracellular matrix glycoprotein encoded by the TNXB gene, which partially overlaps the CYP21A2 gene, which encodes adrenal 21-hydroxylase. The purpose of this study was to assess the relationship between tenascin-X level...