Use of whole-exome sequencing to identify novel monogenic gene mutations and genotype–phenotype correlations in Chinese Han children with urolithiasis

The incidence of urolithiasis (UL) in children has been increasing. Although the pathogenesis of pediatric UL is controversial and remains unclear, multiple monogenic causes of UL have been identified. We aim to investigate the prevalence of inherited UL causes and explore the genotype–phenotype cor...

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Principais autores:	Zhi Wang, Tianqu He, Li liu, Fangyun Tong, Chuangye Li, Yaowang Zhao, Yanfang Li
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2023-04-01
coleção:	Frontiers in Genetics
Assuntos:	pediatric urolithiasis Chinese population monogenic disease whole-exome sequencing metabolic evaluation
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fgene.2023.1128884/full
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