Case Report: Eosinophilic Esophagitis in a Patient With a Novel STAT1 Gain-of-Function Pathogenic Variant

por Scott, Ori, Sharfe, Nigel, Dadi, Harjit, Vong, Linda, Garkaby, Jenny, Abrego Fuentes, Laura, Willett Pachul, Jessica, Nelles, Sandra, Nahum, Amit, Roifman, Chaim M.
Publicado 2022

Homozygous duplication identified by whole genome sequencing causes LRBA deficiency

por Merico, Daniele, Pasternak, Yehonatan, Zarrei, Mehdi, Higginbotham, Edward J., Thiruvahindrapuram, Bhooma, Scott, Ori, Willett-Pachul, Jessica, Grunebaum, Eyal, Upton, Julia, Atkinson, Adelle, Kim, Vy H. D., Aliyev, Elbay, Fakhro, Khalid, Scherer, Stephen W., Roifman, Chaim M.
Publicado 2021