Cargando…
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...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10152365/ https://www.ncbi.nlm.nih.gov/pubmed/37144129 http://dx.doi.org/10.3389/fgene.2023.1128884 |