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Article

A novel homozygous variant in REN in a family presenting with classic features of disorders involving the renin-angiotensin pathway, without renal tubular dysgenesis.

American journal of medical genetics. Part A - 1 Oct 2020

Dilliott Allison A, Wang Jian, Brown Emma, Singh Gagandeep, Shkrum Michael J, Clin Madeleine, Rupar Charles Anthony, Hegele Robert A, Siu Victoria Mok

Abstract excerpt

Autosomal recessively inherited pathogenic variants in genes associated with the renin-angiotensin-aldosterone system (RAAS) result in early onset oligohydramnios and clinical features of the Potter sequence, typically in association with proximal renal tubules dysgenesis. We describe two siblings and a first cousin who had severe oligohydramnios in the second trimester, and presented at birth with loose skin,...

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PMID: 33043632
DOI: 10.1002/ajmg.a.61780

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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