Associated Papers
A novel homozygous variant in REN in a family presenting with classic features of disorders involving the renin-angiotensin pathway, without renal tubular dysgenesis.
Dilliott AA et al.
American Journal of Medical Genetics. Part A, 2020
Structure-Based Analysis of Single Nucleotide Variants in the Renin-Angiotensinogen Complex.
Brown DK et al.
Global Heart, 2017
Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family.
Al-Hamed MH et al.
Clinical Kidney Journal, 2016
[Renal tubular dysgenesis and mutations in the renin-angiotensin system genes].
Gubler MC et al.
Bulletin De L'academie Nationale De Medecine, 2014
Genetics of congenital anomalies of the kidney and urinary tract.
Song R et al.
Pediatric Nephrology (berlin, Germany), 2011
Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking.
Michaud A et al.
Human Molecular Genetics, 2011
Renin-angiotensin system in kidney development: renal tubular dysgenesis.
Gubler MC et al.
Kidney International, 2010
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