Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management
About this item
Full title
Author / Creator
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
This study aimed to use whole-exome sequencing (WES) to diagnose ultra-rare renal diseases and the clinical impact of such an approach on patient care.
Clinical, radiological, pathological, and genetic findings were reviewed in the patients and their family members.
Nine patients from nine unrelated Korean families were included in the study...
Alternative Titles
Full title
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_be9c47dae75f4ea5ad61c05481b6733b
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_be9c47dae75f4ea5ad61c05481b6733b
Other Identifiers
ISSN
1755-8794
E-ISSN
1755-8794
DOI
10.1186/s12920-021-01026-6
