A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review

A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review

<h3>Background</h3><p dir="ltr">Renal tubular dysgenesis (RTD) is a severe disorder with poor prognosis significantly impacting the proximal tubules of the kidney while maintaining an anatomically normal gross structure. The genetic origin of RTD, involving variants in th...

Full description

Saved in:
Bibliographic Details
Main Author: Aljazi Al-Maraghi (14056975) (author)
Other Authors: Waleed Aamer (14056969) (author), Mubarak Ziab (15430083) (author), Elbay Aliyev (14056972) (author), Najwa Elbashir (18288934) (author), Sura Hussein (14152557) (author), Sasirekha Palaniswamy (14152563) (author), Dhullipala Anand (9364649) (author), Donald R. Love (14151258) (author), Adrian Charles (14166141) (author), Ammira A.S.Akil (18425277) (author), Khalid A. Fakhro (3158862) (author)
Published: 2024
Subjects:
Biomedical and clinical sciences
Clinical sciences
Renal tubular dysgenesis
AGTR1
Middle East
Rare Mendelian disease
Whole genome sequencing
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items

Similar Items