Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.

Treena CranstonHannah BoonMie K OlesenFiona J RyanDeborah ShearsRosemary LondonHussam RostomTaha ElajnafRajesh V ThakkerFadil M Hannan

Published in: European journal of endocrinology (2022)

This study of a large cohort referred for AIRE mutational analysis expands the spectrum of genetic abnormalities causing APS-1.

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