Cargando…
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...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
|
| Materias: | |
| 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 |