Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. [electronic resource]
- Kidney international 01 2018
- 204-213 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1523-1755
10.1016/j.kint.2017.06.025 doi
Adolescent Age of Onset Child Child, Preschool Disease Progression Female Genetic Association Studies Genetic Markers Genetic Predisposition to Disease Heredity Humans Infant Male Mutation Nephrocalcinosis--diagnostic imaging Nephrolithiasis--diagnostic imaging Pedigree Phenotype Predictive Value of Tests Prognosis Risk Factors Tomography, X-Ray Computed Ultrasonography Exome Sequencing Young Adult