Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.
Jiwon JungJoo Hoon LeeYoung Seo ParkGo Hun SeoChangwon KeumHee Gyung KangHajeong LeeSang Koo LeeSang Taek LeeHeeyeon ChoBeom-Hee LeePublished in: BMC medical genomics (2021)
As WES can effectively identify ultra-rare genetic renal diseases, facilitate the diagnosis process, and improve patient care, it is a good approach to enable a better understanding of ultra-rare conditions and for the establishment of appropriate counseling, surveillance, and management strategies.