Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management

• Main Authors: Jiwon Jung (Author), Joo Hoon Lee (Author), Young Seo Park (Author), Go Hun Seo (Author), Changwon Keum (Author), Hee Gyung Kang (Author), Hajeong Lee (Author), Sang Koo Lee (Author), Sang Taek Lee (Author), Heeyeon Cho (Author), Beom Hee Lee (Author)
• Format: Book
• Published: BMC, 2021-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background This study aimed to use whole-exome sequencing (WES) to diagnose ultra-rare renal diseases and the clinical impact of such an approach on patient care. Methods Clinical, radiological, pathological, and genetic findings were reviewed in the patients and their family members. Resul...