Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
Daga, Ankana
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
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