Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome.
Erica L MackeJoel A Morales-RosadoSarah K Macklin-MantiaChristopher T SchmitzBjörn OskarssonEric W KleeKlaas J WierengaPublished in: Molecular genetics & genomic medicine (2022)
Review of the patient's clinical, pathological, and genetic findings resulted in a diagnosis of Triple A syndrome.
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