Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome

CONCLUSIONS: Review of the patient's clinical, pathological, and genetic findings resulted in a diagnosis of Triple A syndrome.PMID:35570467 | DOI:10.1002/mgg3.1966

Source: Molecular Medicine - May 16, 2022 Category: Molecular Biology Authors: Erica L Macke Joel A Morales-Rosado Sarah K Macklin-Mantia Christopher T Schmitz Bj örn Oskarsson Eric W Klee Klaas J Wierenga Source Type: research