Article

Case Report: Making a diagnosis of familial renal disease – clinical and patient perspectives

2017-04-12

Abstract excerpt

<h4>Background: </h4> A precise molecular genetic diagnosis has become the gold standard for the correct identification and management of many inherited renal diseases. <h4>Methods: </h4>: Here we describe a family with familial focal segmental glomerulosclerosis, and include a clinical and patient perspective on the diagnostic workup and relaying of genetic results following whole exome sequencing. Results: Throu...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 9b5dc2be-9d1b-529a-84e9-f06a2ef9d267
DOI: 10.12688/f1000research.11316.1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Case Report: Making a diagnosis of familial renal disease – clinical and patient perspectivesDOI 10.12688/f1000research.11316.1Read

Towards precision nephrology: the opportunities and challenges of genomic medicine.Semantic proximity Read

When should the nephrologist think about genetics in patients with glomerular diseases?Semantic proximity Read

Natural history of patients with familial focal segmental glomerulosclerosis associated with TRPC6 variants.Semantic proximity Read

A Practical Guide to Genetic Testing for Kidney Disorders of Unknown Etiology.Semantic proximity Read

Advances in molecular diagnosis and therapeutics in nephrotic syndrome and focal and segmental glomerulosclerosis.Semantic proximity Read

Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing.Semantic proximity Read

Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice.Semantic proximity Read

Incorporating Genetics Into Nephrology Practice-The New National Kidney Foundation Guidelines for Genetic Testing.Semantic proximity Read

Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant RecipientsSemantic proximity Read

Leveraging genomic biobanks to enhance genetic testing outcomes for kidney diseaseSemantic proximity Read

Australia and New Zealand renal gene panel testing in routine clinical practice of 542 familiesSemantic proximity Read

Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant.Semantic proximity Read