Article

SCARB1 downregulation in adrenal insufficiency with Allgrove Syndrome

2022-11-03

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold> Allgrove disease is a rare genetic syndrome characterized by adrenal insufficiency, alacrimia, achalasia and complex neurological involvement. Allgrove disease is due to recessive mutations in the <italic>AAAS</italic> gene, which encodes for the nucleoporin Aladin, implicated in the nucleocytoplasmic transport. The adrenal insufficiency has been suggested to rel...

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Literature Corpus work: 7e53558d-de6f-54e4-a1e4-3d2960763547
DOI: 10.21203/rs.3.rs-2148123/v1

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