Interpretation of Autosomal Recessive Kidney Diseases With "Presumed Homozygous" Pathogenic Variants Should Consider Technical Pitfalls

• Main Authors: Haiyue Deng (Author), Yanqin Zhang (Author), Yong Yao (Author), Huijie Xiao (Author), Baige Su (Author), Ke Xu (Author), Na Guan (Author), Jie Ding (Author), Fang Wang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2020-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: A false interpretation of homozygosity for pathogenic variants causing autosomal recessive disorders can lead to improper genetic counseling. The aim of this study was to demonstrate the underlying etiologies of presumed homozygous disease-causing variants harbored in six unrelated child...