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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Detalhes bibliográficos
Publicado no:Front Pediatr
Main Authors: Deng, Haiyue, Zhang, Yanqin, Yao, Yong, Xiao, Huijie, Su, Baige, Xu, Ke, Guan, Na, Ding, Jie, Wang, Fang
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Pediatrics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7180205/
https://ncbi.nlm.nih.gov/pubmed/32363171
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2020.00165
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