Article
Enrichment of Patients With Ehlers Danlos Syndrome in Idiopathic Gastroparesis-A Gene Set Enrichment Analysis.
Clinical and translational gastroenterology - 1 Mar 2023
Smieszek Sandra P, Carlin Jesse L, Fisher Michaela A, Madonick Darby S, Kupersmith Caleigh Q, Moszczynski Paula D, Xiao Changfu, Polymeropoulos Christos M, Birznieks Gunther, Polymeropoulos Mihael H
Abstract excerpt
INTRODUCTION: Ehlers Danlos syndrome (EDS) is a heritable disorder of the connective tissue usually inherited as an autosomal dominant trait. We observe an enrichment of EDS cases in a gastroparesis clinical study. METHODS: We explored the frequency of EDS cases in 2 consecutive gastroparesis clinical studies. To explore the genetic surrogates of EDS, we have performed whole-genome sequencing analysis and we...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.