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...

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

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