Article

Trio-Based Exome Sequencing and High-Resolution HLA Typing in Families of Patients with Autoimmune Adrenal Insufficiency and Autoimmune Polyglandular Syndrome

2023-11-29

Abstract excerpt

Trio-based exome sequencing and high-resolution HLA typing were employed to analyze three patients with autoimmune adrenal insufficiency (AAI), including those with autoimmune polyglandular syndrome (APS) type 2, as well as their parents. Benign or likely benign variants of the AIRE gene were identified in all participants of the study. These variants, coupled with clinical data and the results of antibody studies...

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Literature Corpus work: 2795285c-6146-5fc9-8c9f-819c307e15f7
DOI: 10.20944/preprints202311.1812.v1

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