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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Detalles Bibliográficos
Autores principales: Deng, Haiyue, Zhang, Yanqin, Yao, Yong, Xiao, Huijie, Su, Baige, Xu, Ke, Guan, Na, Ding, Jie, Wang, Fang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7180205/
https://www.ncbi.nlm.nih.gov/pubmed/32363171
http://dx.doi.org/10.3389/fped.2020.00165

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7180205/
https://www.ncbi.nlm.nih.gov/pubmed/32363171
http://dx.doi.org/10.3389/fped.2020.00165

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