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...

وصف كامل

التفاصيل البيبلوغرافية

المؤلفون الرئيسيون:	Zhi Wang, Tianqu He, Li liu, Fangyun Tong, Chuangye Li, Yaowang Zhao, Yanfang Li
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	Frontiers Media S.A. 2023-04-01
سلاسل:	Frontiers in Genetics
الموضوعات:	pediatric urolithiasis Chinese population monogenic disease whole-exome sequencing metabolic evaluation
الوصول للمادة أونلاين:	https://www.frontiersin.org/articles/10.3389/fgene.2023.1128884/full
الوسوم:	إضافة وسم لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!