Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome - European Journal of Human Genetics European Journal of Human Genetics - Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome

📢 Eleven new patients with #2q32 deletions, affecting #COL3A1 and #COL5A2 present with Ehlers Danlos Syndrome features. 🧬
#EDS #RareDisease #Genetics #EJHG ⬇️

www.nature.com/articles/s41...