Article

Single-exon deletions of<i>ZNRF3</i>exon 2 cause congenital adrenal hypoplasia

2023-06-16

Abstract excerpt

Primary adrenal insufficiency (PAI) is a life-threatening condition characterized by the inability of the adrenal cortex to produce sufficient steroid hormones. E3 ubiquitin protein ligase zinc and ring finger 3 (ZNRF3) is a negative regulator of Wnt/β-catenin signaling. R-spondin 1 (RSPO1) enhances Wnt/β-catenin signaling via binding and removal of ZNRF3 from the cell surface. To explore a novel genetic form of P...

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Literature Corpus work: 35216eef-933b-54ff-b314-bf586d86b864
DOI: 10.1101/2023.06.14.23290643

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