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

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 family of...

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Detalles Bibliográficos
Autores principales: Macke, Erica L., Morales‐Rosado, Joel A., Macklin‐Mantia, Sarah K., Schmitz, Christopher T., Oskarsson, Björn, Klee, Eric W., Wierenga, Klaas J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266593/
https://www.ncbi.nlm.nih.gov/pubmed/35570467
http://dx.doi.org/10.1002/mgg3.1966

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266593/
https://www.ncbi.nlm.nih.gov/pubmed/35570467
http://dx.doi.org/10.1002/mgg3.1966

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