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

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

Abstract Background Achalasia‐addisonianism‐alacrima syndrome, frequently referred to as Allgrove syndrome or Triple A syndrome, is a multisystem disorder resulting from homozygous or compound heterozygous pathogenic variants in the gene encoding aladin (AAAS). Aladin is a member of the WD‐repeat fa...

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Bibliographic Details
Main Authors: Erica L. Macke, Joel A. Morales‐Rosado, Sarah K. Macklin‐Mantia, Christopher T. Schmitz, Björn Oskarsson, Eric W. Klee, Klaas J. Wierenga
Format: Article
Language:English
Published: Wiley 2022-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
achalasia
alacrima
aladin
allgrove
whole‐exome sequencing
Online Access:https://doi.org/10.1002/mgg3.1966

Internet

https://doi.org/10.1002/mgg3.1966

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