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Loss of LGR4/GPR48 causes severe neonatal salt wasting due to disrupted WNT signaling altering adrenal zonation

Disorders of isolated mineralocorticoid deficiency, which cause potentially life-threatening salt-wasting crisis early in life, have been associated with gene variants of aldosterone biosynthesis or resistance; however, in some patients no such variants are found. WNT/β-catenin signaling is crucial...

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Detalles Bibliográficos
Autores principales: Lucas, Cécily, Sauter, Kay-Sara, Steigert, Michael, Mallet, Delphine, Wilmouth, James, Olabe, Julie, Plotton, Ingrid, Morel, Yves, Aeberli, Daniel, Wagner, Franca, Clevers, Hans, Pandey, Amit V., Val, Pierre, Roucher-Boulez, Florence, Flück, Christa E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9927937/
https://www.ncbi.nlm.nih.gov/pubmed/36538378
http://dx.doi.org/10.1172/JCI164915