Exome Sequencing Revealed a Novel Splice Site Variant in the <i>CRB2</i> Gene Underlying Nephrotic Syndrome

Exome Sequencing Revealed a Novel Splice Site Variant in the <i>CRB2</i> Gene Underlying Nephrotic Syndrome

<i>Background and Objectives</i>: Nephrotic syndrome (NS) is a kidney disease where the patient has a classic triad of signs and symptoms including hypercholesterolemia, hypoalbuminemia, proteinuria (>3.5 g/24 h), and peripheral edema. In case of NS, the damaged nephrons (structural a...

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Bibliographic Details
Main Authors: Anam Simaab, Jai Krishin, Sultan Rashid Alaradi, Nighat Haider, Muqadar Shah, Asmat Ullah, Abdullah Abdullah, Wasim Ahmad, Torben Hansen, Sulman Basit
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:Medicina
Subjects:
nephrotic syndrome
whole exome sequencing
novel splice site variant
<i>CRB2</i>
Online Access:https://www.mdpi.com/1648-9144/58/12/1784

Internet

https://www.mdpi.com/1648-9144/58/12/1784

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