Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort

OBJECTIVE: Hereditary factors are the main cause of pediatric nephrolithiasis (NL)/nephrocalcinosis (NC). We summarized the genotype–phenotype correlation of hereditary NL/NC in our center, to evaluate the role of genetic testing in early diagnosis. METHODS: The clinical data of 32 NL/NC cases, whic...

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Detalles Bibliográficos
Autores principales: Huang, Lin, Qi, Chang, Zhu, Gaohong, Ding, Juanjuan, Yuan, Li, Sun, Jie, He, Xuelian, Wang, Xiaowen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9250473/
https://www.ncbi.nlm.nih.gov/pubmed/35612621
http://dx.doi.org/10.1007/s00438-022-01897-z

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