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

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

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...

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Bibliographic Details
Main Authors: Haiyue Deng, Yanqin Zhang, Yong Yao, Huijie Xiao, Baige Su, Ke Xu, Na Guan, Jie Ding, Fang Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-04-01
Series:Frontiers in Pediatrics
Subjects:
autosomal recessive
genetic counseling
homozygous variant
kidney
uniparental disomy
Online Access:https://www.frontiersin.org/article/10.3389/fped.2020.00165/full

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