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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محفوظ في:
التفاصيل البيبلوغرافية
المؤلف الرئيسي: Aljazi Al-Maraghi (14056975) (author)
مؤلفون آخرون: 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)
منشور في: 2024
الموضوعات:
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